Extended, Flexible Program Matching Red Cell Antigens for Patients with Sickle Cell Anemia Provides for Both Chronic and Intermittent Transfusions.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 2899-2899
Author(s):  
Daniel R. Ambruso ◽  
Michele LaSalle-Williams ◽  
Tuan Le ◽  
Laura Cole ◽  
Kathy Hassell ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Perfect Match ◽  
Clinical Situation ◽  
Red Cells ◽  
Acute Chest Syndrome ◽  
Blood Group Antigens ◽  
Red Cell ◽  
Transfusion Therapy ◽  
Antibody Screen

Abstract Introduction: Transfusion of packed red cells (PRBCs) remains the major treatment of severe complications in sickle cell anemia. Patients may require acute, intermittent transfusions for some problems while other, more severe complications are treated with chronic transfusion (≥ 6 months) regimens to replace and suppress production of sickle cells. One of the main complications of transfusion therapy is production of red cell alloantibodies which significantly increases the risk of subsequent transfusions and limits the timely provision of appropriate blood products. Since 1978, we have provided sickle cell patients with extended matching of PRBCs to reduce the rate of alloimmunization. The flexibility of the program is adapted to meet both acute and chronic needs of the patient population. Methods: Records of patients with sickle hemoglobinopathies enrolled in the Colorado Sickle Cell Treatment and Research Center between December 31, 1993 and January 1, 2006 were reviewed under a protocol approved by the COMIRB at UCDHSC. At enrollment, serologic testing was completed on patients for the following blood group antigens: ABO; Rhesus (C,c,D,E,e); Kell (K,k); Duffy (Fya,Fyb); Kidd (Jka,Jkb); Lewis (Lea,Leb); and MNS (M,N,S,s). Donors were typed for the same antigens. For all transfusions, a perfect match was sought. When exact matches at all loci could not be found, mismatches were allowed when necessary for Fyb and MNS because of lower risk of sensitization and for Le because of infrequent hemolytic transfusion reactions. Antibody screens were completed as part of crossmatch technique at the time of each transfusion by standard methods. When an antibody screen was positive, standard antiglobulin and enzyme techniques and cell panels were used to identify the antibody. For the purposes of this study, information about patients with sickle cell anemia, complications, numbers and types of transfusions were reviewed. Results: Over the past 13 years, a total of 6,978 transfusions were provided to 104 patients (mean 68, range 1–519). In this group, 90 patients (86.5%) had HbSS, 11 (10.6%) had HbSC, and 3 (2.9%) had HbS β-thalassemia. Indications for transfusions included vaso-occlusive crisis, aplastic crises, splenic sequestration, and preparation for surgery, acute chest syndrome, stroke and priapism. Fifty-two patients (50%) received simple transfusions only while 33 (32%) had only PRBC exchange and 19 (18%) required both modalities. Of the total group, 42 (40%) were on chronic transfusions and 11 (10%) had both intermittent and chronic transfusions. The protocol and system for delivering matched PRBCs was flexible enough that even when red cells were needed for intermittent transfusions in 62 (60%) patients, delivery of the products was easily accomplished. In only 8 patients receiving 13 units of PRBCs was the clinical situation so urgent that non-antigen matched units was required. Conclusion: PRBCs with extended antigen matching were provided to our population of patients with sickle cell anemia. The program provided blood components for both intermittent and chronic transfusion schemes with very few patients having such urgent conditions that they required products without extended matching.

Extended Matching of Red Cell Antigens for Patients with Sickle Cell Anemia Decreases the Rate of Alloimmunization.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 3389-3389 ◽  
Author(s):  
Daniel R. Ambruso ◽  
Michele LaSalle-Williams ◽  
Tuan Le ◽  
Laura Cole ◽  
Kathy Hassell ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Perfect Match ◽  
Major Complication ◽  
Blood Group Antigens ◽  
Red Cell ◽  
Packed Red Blood Cells ◽  
Red Cell Antigens ◽  
Absolute Requirement ◽  
Antibody Screen

Abstract Introduction: Transfusions of packed red blood cells (PRBCs) remain an important treatment for the severe complications of sickle cell anemia. A major complication of transfusions, however, is the formation of alloantibodies to minor red cell antigens. Since 1978 we have provided extended matching for sickle cell patients requiring chronic or intermittent transfusions. We present here a review of our experience with extended matching for decreasing the rate of alloimmunization. Methods: Records of patients with sickle hemoglobinopathies enrolled in the Colorado Sickle Cell Treatment and Research Center between December 31, 1993 and January 1, 2006 were reviewed under a protocol approved by the COMIRB at UCDHSC. At enrollment, serologic testing was completed on patients for the following blood group antigens: ABO; Rhesus (C,c,D,E,e); Kell (K,k); Duffy (Fya,Fyb); Kidd (Jka,Jkb); Lewis (Lea,Leb); and MNS (M,N,S,s). Donors were typed for the same antigens. For all transfusions, a perfect match was sought. Perfect matches for Rhesus, Kell, Duffy (Fya) and Kidd were an absolute requirement. Mismatches were allowed for Fyb and MNS when an identical match could not be found because of lower risk of sensitization and for Le because of infrequent hemolytic transfusion reactions. Antibody screens were completed as part of crossmatch technique at the time of each transfusion by standard methods. When an antibody screen was positive, standard antiglobulin and enzyme techniques and cell panels were used to identify the antibody. For the purposes of this study, the extent of matching and numbers and types of antibodies was determined. Results: The study population included 104 patients who received transfusions exclusively on the matching protocol; 57 were males and 47 were females. The age of first transfusion ranged from the first year of life to 19.7 years (mean 7.5 years). Hemoglobinopathies included 90 Hgb SS, 11 Hgb SC, and 3 HbS β-thalassemia. During the study, 6,978 transfusions of PRBCs were administered; mean per patient, 68; range 1–519. Of the total number of transfusions, 525 were exactly matched for all antigens. When mismatches for Le, Fyb and MNS were discounted, 6,217 were exactly matched. Of 104 patients, seven (6.7%) developed one alloantibody each: 1 anti-Lea, 1 anti-Kpa, 2 anti-M and 3 anti-D mosaic. Because the three patients who developed anti-D were mosaics and typed as Rh(D) positive, they would have developed antibodies with any approach to providing PRBCs. Excluding these three, the rate of antibody production was 0.06 antibodies per 100 units transfused. This represents more than a 50-fold decrease in development of alloantibodies compared to typing for ABO and Rh(D) alone (historical controls, 33% of patients alloimmunized, 3.5 antibodies/100 units transfused). Minimal difficulties were encountered in the patients who had developed alloantibodies; matching appropriate units to the antibodies and antigens in their phenotype were not difficult. Conclusion: Extended matching of red cell antigens dramatically reduces the rate of alloimmunization in patients with sickle cell anemia. Whenever possible, extended matching beyond Rhesus and Kell should be considered to avoid antibodies to minor red cell antigens and their complications.

Autoantibodies in Patients with Sickle Cell Anemia Receiving Extended Antigen Matched Packed Red Cell Transfusions.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 2889-2889
Author(s):  
Daniel R. Ambruso ◽  
Michele LaSalle-Williams ◽  
Tuan Le ◽  
Laura Cole ◽  
Kathy Hassell ◽  
...  
Keyword(s):  
Red Blood Cells ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Blood Cells ◽  
Perfect Match ◽  
Underlying Disease ◽  
Blood Group Antigens ◽  
Packed Red Blood Cells ◽  
Historic Control ◽  
Antibody Screen

Abstract Introduction: Patients with sickle cell anemia require transfusions for severe complications of their underlying disease. Both allo- and autoantibodies to red blood cells are reported in patients receiving transfusions of packed red blood cells (PRBCs). Since 1978, we have provided PRBCs with extended antigen matching for patients requiring intermittent or chronic transfusions. Extended matching reduced the rate of alloimmunization but patients continued to develop autoantibodies. Methods: Records of patients with sickle hemoglobinopathies enrolled in the Colorado Sickle Cell Treatment and Research Center between December 31, 1993 and January 1, 2006 were reviewed under a protocol approved by the COMIRB at UCDHSC. At enrollment, serologic testing was completed on patients for the following blood group antigens: ABO; Rhesus (C,c,D,E,e); Kell (K,k); Duffy (Fya,Fyb); Kidd (Jka,Jkb); Lewis (Lea,Leb); and MNS (M,N,S,s). Donors were typed for the same antigens. For all transfusions, a perfect match was sought. However, when exact matches could not be found, mismatches were allowed when necessary for Fyb and MNS because of lower risk of sensitization and for Le because of infrequent hemolytic transfusion reactions. Antibody screens were completed as part of crossmatch technique at the time of each transfusion by standard methods. When an antibody screen was positive, standard antiglobulin and enzyme techniques and cell panels were used to identify the antibody. Results: Over the 13 years, 104 patients received 6,978 PRBC units under the matching protocol when transfusion was required. The average was 68 units per patient (range 1–519). Of this group, 62 (60%) received intermittent transfusions and 42 (40%) chronic transfusions (repeated transfusions every 3–6 weeks for at least 6 months). Eleven patients had complications requiring both schedules of transfusions. Seven patients (6.7%) developed alloantibodies; 3 anti-D (mosaic), 1 anti-Lea, 1 anti-Kpa and 2 anti-M. Since the three cases of anti-D would have been typed as Rh(D) positive and would have occurred with any program for antigen matching by serologic techniques, the rate of alloimmunization was reduced from 3.5 antibodies/100 transfusions (historic control before antigen matching) to 0.06 per 100 transfusions with extended matching. Although there was a reduction in alloantibodies, 12 patients had positive DAT associated with an autoantibody. Only one patient with an autoantibody had an associated alloantibody. Of eleven patients with autoantibodies only, eight developed warm autoantibodies; 4 with anti-e specificity, 1 with anti-E specificity and 3 panagglutinins. Six antibodies were cold, 3 with I specificity and 3 non-specific. Nine patients had 1 antibody and 3 patients had two antibodies. Conclusion: Although extended matching reduced the rate of alloimmunization, autoantibody formation was not altered. Patients on both chronic and intermittent transfusions develop both warm and cold autoantibodies to red cells.

scholarly journals Role of Emergency Automated Red Cell Exchange in Sickle Cell Crisis: A Case Report

2020 ◽  
Vol 13 ◽  
pp. 117954762097020
Author(s):  
Anubhav Gupta ◽  
Kiran Chaudhary ◽  
Rajnish Kaushik
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anaemia ◽  
Symptomatic Improvement ◽  
Red Cells ◽  
Acute Chest Syndrome ◽  
Compound Heterozygous ◽  
Red Cell ◽  
Transfusion Therapy ◽  
Sickle Cell Crisis ◽  
Patient At Risk

For many years main stay of treatment for sickle cell anaemia was transfusion therapy. But repeated transfusions put the patient at risk of iron overload. Automated red cell exchange is an evolving and newer technique which rapidly removes the sickle cells and has benefit in decreasing sickle cell load and related complications. Red cell exchange is a therapeutic procedure in which the patient’s whole blood is processed centrifugally in cell separator. Patient’s red cells are separated from other blood components and removed and replaced with donor red cells and colloids. We report our first experience of automated red cell exchange in 24-year-old female diagnosed case of sickle cell anaemia presented to us with acute chest syndrome with septic shock. Red cell exchange was planned to tide over the acute sickle cell crisis and provide symptomatic improvement. We also highlight that compound heterozygous thalassaemia could be associated with sickle cell disease which could make the diagnosis difficult. New generation automated Apheresis equipment’s provides better monitoring of the procedure that can be useful in severely ill patients also.

scholarly journals Increased Ca++, Mg++, and Na+ + K+ ATPase activities in erythrocytes of sickle cell anemia

Blood ◽  
1982 ◽  
Vol 60 (6) ◽  
pp. 1332-1336 ◽  
Author(s):  
MG Luthra ◽  
DA Sears
Keyword(s):  
Enzyme Activity ◽  
Blood Cell ◽  
Atpase Activity ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Red Blood Cell ◽  
Calcium Binding ◽  
Red Cells ◽  
Low Density ◽  
Red Cell

Abstract To determine whether diminished activity of the Ca++ extrusion pump could account for the high levels of red blood cell (RBC) Ca++ in sickle cell anemia (SS), we measured calmodulin-sensitive Ca++ ATPase activity in normal and SS RBC. Hemolysates prepared with saponin were compared, since such preparations expressed maximum ATPase activities, exceeding isolated membranes or reconstituted systems of membranes plus cytosol, SS RBC hemolysates had greater Ca++ ATPase activity than normal hemolysates; they exhibited higher Mg++ and Na+ + K+ ATPase activities as well. Assays on density (age) fractions of SS and normal red cells demonstrated that all ATPase activities were highest in low density (young) cells, and activities in SS red cells exceeded those in normals in all fractions studied. Thus, when studied under conditions that maximize enzyme activity, Ca++ ATPase activity, like Mg++ and Na+ + K+ ATPase, is actually increased in SS RBC, probably due to the young red cell population present. The elevated Ca++ levels in these cells are more likely due to an increased Ca++ leak or abnormal calcium binding than to defective extrusion by the ATPase pump.

Clinical Complications in Adult Patients with Sickle Cell Anemia and β-Thalassemia-Sickle Cell Disease

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 4767-4767
Author(s):  
Giovanna Graziadei ◽  
Alessia Marcon ◽  
Martina Soldarini ◽  
Ilaria Gandolfi ◽  
Luisa Ronzoni ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Acute Chest Syndrome ◽  
P Value ◽  
Cell Disease ◽  
Transfusion Therapy ◽  
Clinical Complications ◽  
Significant Difference ◽  
The Mean

Abstract Abstract 4767 Background. Sickle-Cell Disease (SCD) is one of the most common severe monogenic inherited disorders worldwide, due to hemoglobin S (HbS), with reduced affinity for the oxygen. HbS polymerization, leading to erythrocyte rigidity, vaso-occlusion and hemolytic anemia, is central in the pathophysiology and crucial for the clinical outcome. The term SCD refers to Sickle Cell Anemia (SCA) due to homozygosis for βS allele, HbS/β-thalassemia (T-SCD) due to compound of β-thal and βS allele, and HbSC disease, owing to the coinheritance of βS and βcalleles. SCD is a multiorgan disease characterized by recurrent acute events and progressive organ damage, worsening during the life. Aims. This is a retrospective monocentric study aimed to assess and compare the clinical complications among 59 adult SCD patients, followed at the Hereditary Anemia Centre of the Foundation IRCCS “Ca Granda” Ospedale Maggiore Policlinico, in Milan, Italy. Methods. Mutation analysis of the b globin gene was established by direct DNA sequencing on the ABI Prism 310 genetic analyzer. Clinical and hematological features were evaluated by routine tests and physical examination, with special attention to the erythropoiesis stress parameters as LDH values and extramedullary erythropoietic (EE) masses. Results. Fifty-nine adult SCD patients, 16 SCA and 43 T-SCD, were evaluated. In T-SCD patients detected b-mutations were severe (b°) in 69.8%, and moderate or mild (b+-b++) in 30.2%. The mean age of SCA patients was 36±9 and 41±11 years for T-SCD patients. For both groups the mean follow-up was 20±6 years, while the mean age at the presentation in our Centre was 32±8 years in SCA patients and 31±10 years in T-SCD ones. Five out of 16 (31.2%) SCA patients and 16/43 (37.2%) T-SCD patients were male. HbF mean levels were 6.9±5.1% and 10.1±7.2%, respectively in SCA and T-SCD group; surprisingly Hb mean levels were lower in SCA (9.3±1.3 g/dl) than in T-SCD (9.9±1.4 g/dl) patients. Comparing SCA and T-SCD, there was statistically significant difference in splenic features: splenectomy was performed in 2/16 (12.5%) SCA patients vs 21/43 (48.8%) T-SCD patients (p-value < 0.01). Splenomegaly was absent in SCA, while was detected in 11/22 (50%) T-SCD (p-value < 0.0001); all SCA patients had functional asplenia, not observed in T-SCD patients; splenic infarctions were absent in SCA patients and were detected in 7/22 (31.8%) T-SCD patients, of whom 5 had splenomegaly and 2 had normal spleen size (pvalue <0.001). On the other side, there was not statistically significant difference in the prevalence of stroke, acute chest syndrome (ACS), bone pain crisis, sepsis, leg ulcers and priapism. However, we observed some clinical differences, even if not statistically significant. Cholecistectomy was performed in 4/16 (25%) SCA patients vs 17/43 (39.5%) T-SCD patients, and gallstones were detected respectively in 5/12 (41.7%) and in 14/26 (53.8%) of SCA and T-SCD patients. Thrombotic events were absent in SCA patients, compared to 4/43 (9.3%) T-SCD patients. Furthermore, we detected EE in 3/16 (18.6%) SCA and in 3/43 (7%) T-SCD, all carrying b° thal mutations. We underlie that Hb levels and LDH values were higher in SCA than in T-SCD patients (823±295 vs 689±209 U/L). About the treatment, 14/16 (87.5%) SCA and 31/43 (72%) T-SCD underwent to top-up transfusion; 5/43 (11.6%) T-SCD were regularly transfused. Seven out of 16 (43.8%) SCA and 18/43 (41.8%) T-SCD patients were treated with Hydroxycarbamide (HU). Criteria for transfusion therapy were: painful crisis not responsive to HU, major clinical complications, such as stroke or ACS, extramedullary erythropoietic masses associated with high LDH levels and low Hb values. Conclusions. These data suggest that SCA and T-SCD patients have similar clinical course. Splenomegaly is present only in T-SCD patients, probably due to the increased amount of extravascular hemolysis. Surprisingly, SCA patients showed EE and lower Hb levels with higher LDH values compared to T-SCD ones. This could be related to the prevalence of intravascular hemolysis, that can lead to erythropoietic stress in SCA, even if tissues are better oxygenated in these patients because of biochemical characteristic of HbS in terms of decreased oxygen affinity. These observations could be important to evaluate transfusion and HU treatment. Disclosures: Cappellini: Novartis: Research Funding.

scholarly journals Minimising Transfusion Therapy and Alloimmunisation in Patients with Sickle Cell Disorder in the Era of Hydroxyurea

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 5078-5078
Author(s):  
Louise Smith ◽  
Lucy Stead ◽  
Russell D Keenan ◽  
Rekha Thangavelu
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anaemia ◽  
Conflicts Of Interest ◽  
Cell Phenotype ◽  
Acute Chest Syndrome ◽  
Red Cell ◽  
Blood Products ◽  
Related Complication ◽  
Transfusion Therapy ◽  
Historical Presence

Abstract In the UK, 700 patients with sickle cell disease are on a transfusion programme1. Red blood cell (RBC) AI occurs in 4.4-76%2 of regularly transfused sickle patients. Contributing factors include repeated transfusions and ethnic differences between sickle cell patients and their donors. This results in higher rates of mismatch in phenotyped and genotyped blood. There is a continued lack of availability of blood products from more compatible ethnic donors. Sickle patients on transfusion programmes are transfused every 3-6 weeks, creating a large burden on healthcare services in terms of time, labour and resources such as extended red cell typing in order to reduce antibody formation. The presence of RBC antibodies in patients can cause significant delays in obtaining cross matched blood and reductions in phenotype matched blood being transfused. The aims of this project were to a) review transfusion use in relation to the use of hydroxyurea (HU) patients treated at Alder Hey (AH) and b) review rates of AI in these patients. At AH we have changed our practice to offer HU from age 9 months as a disease modifying therapy 20-35mg/kg/day. We retrospectively reviewed the use of blood products in our cohort of 60 patients, age between 0-20 years (mean 11yrs). Patients were observed over their life period treated at AH, mean 10.1 patient years, range 0-20years, total of 439 patient years. We studied retrospectively the number of RBC transfusions and the historical presence of antibodies. We then re-tested all patients to determine current antibody status. Prior to commencement of hydroxyurea, 342 units of bloods were transfused to 21 patients over 243 patient years, which is 1.41 units per patient per year. After commencement of hydroxyurea, 114.5 units were transfused to 17 patients in 187.1 patient years, 0.61 units per patient per year. Indications for transfusion included acute chest syndrome, aplastic crisis, prolonged crisis, increased acute anaemia, hydroxyurea induced anaemia, pre-operatively. 3 patients in our cohort had previous antibodies. Upon repeat antibody screening, no patients had detectable RBC antibodies. All patients have an extended red cell phenotype as part of their initial workup on referral to our service. Elective, non-acute patients (transfusion programme, pre-operative, hydroxycarbamide induced anaemia) all receive fully phenotyped blood. This cannot be guaranteed in acute situations where patients receive the best matched blood available. This practice of minimising blood transfusion use in patients with sickle cell anaemia can reduce blood product usage and as a result reduce the demand for ethnic minority transfusion donors. The subsequent donor exposure would therefore also decrease transfusion related complication of AI. 1 National Haemoglobinopathy Registry Annual Report 2016/17 2G. da Cunha Gomes, E & A. F. Machado, L & C. de Oliveira, L & F. N. Neto, J. (2018). The erythrocyte alloimmunisation in patients with sickle cell anaemia: a systematic review: Erythrocyte alloimmunisation in sickle cell anaemia. Transfusion Medicine. 10.1111/tme.12543. Disclosures No relevant conflicts of interest to declare.

scholarly journals Increased Ca++, Mg++, and Na+ + K+ ATPase activities in erythrocytes of sickle cell anemia

Blood ◽  
1982 ◽  
Vol 60 (6) ◽  
pp. 1332-1336
Author(s):  
MG Luthra ◽  
DA Sears
Keyword(s):  
Enzyme Activity ◽  
Blood Cell ◽  
Atpase Activity ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Red Blood Cell ◽  
Calcium Binding ◽  
Red Cells ◽  
Low Density ◽  
Red Cell

To determine whether diminished activity of the Ca++ extrusion pump could account for the high levels of red blood cell (RBC) Ca++ in sickle cell anemia (SS), we measured calmodulin-sensitive Ca++ ATPase activity in normal and SS RBC. Hemolysates prepared with saponin were compared, since such preparations expressed maximum ATPase activities, exceeding isolated membranes or reconstituted systems of membranes plus cytosol, SS RBC hemolysates had greater Ca++ ATPase activity than normal hemolysates; they exhibited higher Mg++ and Na+ + K+ ATPase activities as well. Assays on density (age) fractions of SS and normal red cells demonstrated that all ATPase activities were highest in low density (young) cells, and activities in SS red cells exceeded those in normals in all fractions studied. Thus, when studied under conditions that maximize enzyme activity, Ca++ ATPase activity, like Mg++ and Na+ + K+ ATPase, is actually increased in SS RBC, probably due to the young red cell population present. The elevated Ca++ levels in these cells are more likely due to an increased Ca++ leak or abnormal calcium binding than to defective extrusion by the ATPase pump.

Prevalence of Sickle Cell Anemia In Eastern India

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 4822-4822
Author(s):  
Abhijit Chakraborty ◽  
Jayasri Basak ◽  
Deboshree Majumdar ◽  
Soma Mukhopadhyay ◽  
Sagnik Chakraborty ◽  
...  
Keyword(s):  
Risk Factor ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
West Bengal ◽  
Conflicts Of Interest ◽  
Acute Chest Syndrome ◽  
Red Cell ◽  
Cell Disease ◽  
Cell Counts

Abstract Abstract 4822 Background: Sickle cell disease is an inherited disorder of hemoglobin synthesis. This is due to replacement of Valine for Glutamic Acid in position six of the Beta globin chain of hemoglobin. This genetic alteration yields unstable RBC which lasts for 10–20 days. In stressful conditions the cells become sickle shaped and get lysed. There are about 20 million people with sickle cell disease in India. During January 2009- May2010 camps were held in various parts of West Bengal, Jharkhand, Chattisgarh. Along with various mutations of thalassemia, we also observed sickle cell anemia among them. This triggered our interest to study the spectrum of the sickle mutation co-inheritant with different mutations such as Homozygous Sickle Cell, Sickle Cell-Beta0 Thalassemia, Sickle Cell-Beta+ Thalassemia, Severe β+ thalassemia genes, Moderate β+ thalassemia genes, Mild β+ thalassemia genes Sickle cell-HbE Thalassaemia, Sickle cell-HPFH Thalassaemia, in said part of India. Since Indian patients with SS disease had higher hemoglobin, red cell counts and higher HbF levels and lower HbA2, MCHC, MCV, and reticulocyte counts, hence a high hemoglobin is a risk factor for painful crises and may also be a risk factor for avascular necrosis of the femoral head, proliferative sickle retinopathy, and acute chest syndrome. Methods: We have screened 332 individuals in eastern part of India during the period January 2009- May 2010. 3ml of peripheral blood was collected in EDTA vial from each individual. NESTROFT (Naked Eye Single Tube Red Cell Osmotic Fragility Test) was performed on spot. Then Complete Blood Count was done within 24 hours of collection. HPLC (High Performance Liquid Chromatography) was performed to identify the samples for confirmation. In our observation in case of sickle cell anaemia HbF (Fetal haemoglobin), Hb (haemoglobin), MCV (mean corpuscular volume) values ranges between 0–10 %, ≤7-10g/dl, 65–90fl respectively. ARMS (Amplification Refractory Mutation System) PCR (polymerase chain reaction) was done to confirm the mutation. Result: Conclusion: Of the total samples collected in the camps held at various places of Jharkand, Chattisgarh & West Bengal 87 of them was carriers of sickle cell anemia. There was 7 homozygous (SS), 14 sickle beta, 12 double heterozygous for HPFH (High Persistance of Fetal Hemoglobin) & sickle cell anemia. In conclusion, the manifestations of sickle cell disease are influenced by a variety of other genetic and environmental factors. The occurrence of the disease against different genetic and environmental backgrounds provides experimental models that contribute to understanding the variability in clinical and hematological expression of the disease. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Studies on Abnormal Hemoglobins

Blood ◽  
1952 ◽  
Vol 7 (12) ◽  
pp. 1216-1226 ◽  
Author(s):  
KARL SINGER ◽  
BEN FISHER
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Nonuniform Distribution ◽  
Red Cells ◽  
Mechanical Trauma ◽  
Red Cell ◽  
High Concentration ◽  
Variable Size ◽  
Unequal Distribution

Abstract 1. By transfusing sickle cell anemia erythrocytes with a relatively high concentration of F hemoglobin into normal recipients, it was demonstrated that the disappearance rates of the transfused cells and of their alkali resistant pigment consistently showed great discrepancies. These observations suggest an unequal distribution of the F pigment within the erythrocyte population. A nonuniform distribution of F hemoglobin could also be detected in vitro by exposing sickle cell anemia bloods to mechanical trauma for a longer period of time. The cells most resistant to trauma contained a higher percentage of F hemoglobin than the original blood specimen. 2. The red cell population of patients with sickle cell anemia seems to be composed of three main fractions: (1) cells containing S hemoglobin and no or little F hemoglobin, (2) cells containing both pigments and (3) cells containing F pigment with no or little S hemoglobin. 3. The erythrocytes carrying mostly S hemoglobin have the shortest life span, whereas the red cells containing mostly F hemoglobin have the longest survival time. 4. The significance of these findings in regard to clinical and genetic aspects of sickle cell anemia is discussed. No direct correlation is demonstrable in an individual patient between the absolute amounts of either type S or type F hemoglobin and the severity of the anemia. The latter depends on the variable size of the portion of red cells containing mostly S hemoglobin, and also on the ability of the marrow to replace this particular fraction.

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