scholarly journals Mean Corpuscular Volume (MCV) and Mean Corpuscular Hemoglobin (MCH) Determinations in Newborns with Beta Thalassemia

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4904-4904
Author(s):  
Kaitlin Bierman ◽  
Harold M. Maurer ◽  
James Harper
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Mean Corpuscular Hemoglobin ◽  
Corpuscular Hemoglobin ◽  
Newborn Period ◽  
Alpha Thalassemia ◽  
Thalassemia Minor ◽  
Thalassemia Trait

Abstract Newborns with alpha thalassemia trait have microcytic red blood cells (RBCs) used as a diagnostic screening tool at birth. Infants with beta thalassemia present with microcytosis sometime during the first year of life; however, whether microcytosis is present in newborns is unknown. In this study, we determined the MCV and MCH values in newborn infants, who have beta0 thalassemia major, intermedia, and minor by performing a retrospective study, with IRB approval. 189 eligible patients seen by the hematology/oncology group of 10 physicians at Children's Hospital Medical Center (CHMC) and UNMC were reviewed. Patients were identified by International Classification Codes-10 (56.1, 56.3, 57.3, 57.4). Of the 189 eligible patients with beta thalassemia major, intermedia, minor, and sickle cell trait (used as controls), there were 28 evaluable and 161 non-evaluable patients. The non-evaluable patients had either the wrong diagnosis (coexisting alpha thalassemia trait) (68) or no laboratory data within the newborn period or up to 6 months of age (93). A second control group used were normal complete blood count (CBC) values by age from the Pathology Laboratory at CHMC. Of the 28 evaluable infants, 5 had beta0 thalassemia major, 2 had sickle-beta+ thalassemia (regarded as intermedia for this study), 7 had beta thalassemia minor, and 14 had sickle cell trait. The diagnosis in each of the 28 infants was confirmed by newborn screening for a hemoglobinopathy and hemoglobin electrophoresis sometime after birth. The MCV, MCH, mean corpuscular hemoglobin concentration (MCHC), hemoglobin (hgb), hematocrit (hct), and red blood cell count (RBC) were taken on evaluable patients within the newborn period through 6 months of age and de-identified using the Safe Harbor Method. MCV and MCH were found to be reduced in newborns with beta0 thalassemia and sickle-beta+ thalassemia. However, infants with beta thalassemia minor had normal MCV and MCH values. The MCHC, RBC, hgb, and hct were comparable to controls and within normal limits. By 3-4 months of age, in the infants with beta thalassemia major or intermedia, the MCV and MCH fell to clinically characteristic levels when compared to controls, and plateaued through 6 months of age. MCV and MCH values for infants with beta thalassemia minor, 0-6 months of age, were incomplete to be able to draw a similar conclusion. The proposed mechanism for microcytosis in major and intermedia is an imbalance between alpha and beta globin chain synthesis, which is not apparent in newborns with minor. In conclusion, the MCV and MCH can be used to screen for beta0 thalassemia major and intermedia in newborns. Although the data are discriminating despite the small numbers, a prospective study should confirm these findings. Figure. Figure. Disclosures No relevant conflicts of interest to declare.

scholarly journals The Optimal Cut-Off Level for Hemoglobin A2 to Differentiate between Sickle Cell Disease Genotypes

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 2391-2391 ◽  
Author(s):  
Fayiz Al Shueili ◽  
Murtadha K. Al-Khabori ◽  
Salam Al-Kindi ◽  
Yasser Wali ◽  
Shoaib Al-Zadjali
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Roc Analysis ◽  
Beta Thalassemia ◽  
Cell Disease ◽  
R Program ◽  
Alpha Thalassemia ◽  
Thalassemia Trait ◽  
Hemoglobin A2 ◽  
Rbc Count

Abstract Objectives: Hemoglobin A2 (HbA2) is elevated in the presence of beta thalassemia trait and it is used as an indicator of its presence. High-Performance Liquid Chromatography (HPLC) overestimates HbA2 in patients with Sickle Cell Disease (SCD) due to the co-elution of HbS in HbA2 column. The optimal cut-off level of HbA2 to indicate the presence of beta thalassemia trait has not been well established in patients with SCD. We aim to define the optimal cut-off level of HbA2 to differentiate between SS and S/Beta SCD genotype variants. Methods: In this cross-sectional study, we included 241 patients with SCD who have either SS or S/Beta genotype based on their HPLC and the Sickledex test®. The diagnoses were confirmed by the direct sequencing of PCR amplified products of all exons, exon-intron junctions and promoter region of the beta globin gene. We retrieved the following clinical and laboratory variables from the electronic health records: age, gender, Hemoglobin (Hb), Mean Corpuscular Volume (MCV), Red Blood Cell (RBC) count and HbA2. We used the receiver operating curve (ROC) analysis to obtain the optimal cut-off level of HbA2 using the maximum sensitivity and specificity (Youden criteria). All descriptive and analytical statistics were performed using R program. The ROC analysis was performed with the "OptimalCutpoints" package available in R program. Results: Among the 241 patients included in the analysis, SS and S/Bthal patients were 81% and 19% respectively. Male to female ratio was 126:115. Fifty-two percent were using hydroxyurea. The median HbA2 level was 4.5% (Range: 0.0-6.5) in the SS group and 6.5% (Range: 3.5-8.2) in the S/Bthal group. The median Hb, MCV and RBC count was 9.4 g/dL (Range: 5.3 - 15.0), 75 fL (55 - 111) and 3.8 *1012/L (1.9 - 6.3) respectively for the SS group; while it was 9.7 g/dL (6.6 - 12.3), 68 fL (57 - 86) and 4.2 *1012/L (2.5 - 5.4) respectively for the S/Bthal group. The optimal cut-off level for HbA2 was estimated to be 5.7% using a sensitivity of 91% and a specificity of 92%. The positive and negative predictive values were 75% and 98% respectively. The discrimination estimated using the Area Under the Curve (AUC) was 0.936 (95% Confidence Interval: 0.878-0.994). Conclusions: The optimal cut-off HbA2 level to differentiate SCD with the S/Bthal genotype from the SS genotype is 5.7% with a high sensitivity, specificity and discrimination. The unexpected overlap in the MCV and the RBC count is likely related to the high rate of Alpha thalassemia trait in the analyzed population. Incorporation of the presence of alpha thalassemia trait in the analysis may improve the discrimination of MCV and RBC count. Disclosures No relevant conflicts of interest to declare.

scholarly journals Clinical and laboratory features of Hemoglobin La Desirade variant in association with sickle cell and alpha thalassemia genes

2020 ◽  
Vol 13 (1) ◽  
pp. e2021010
Author(s):  
Salam Alkindi ◽  
Shoaib Al Zadjali ◽  
Mohamed Al Rawahi ◽  
Hamoud Al Haddabi ◽  
Shahina Daar ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Clinical Manifestations ◽  
Oxygen Affinity ◽  
Significant Degree ◽  
Beta Thalassemia ◽  
Compound Heterozygous ◽  
Laboratory Findings ◽  
Alpha Thalassemia ◽  
Hemoglobin Variants

Abstract Hemoglobin La Desirade (Hb La Desirade) is an unstable hemoglobin variant characterized by amino acid Alanine (Ala) replacing Valine (Val) at position 129 (H7) in the beta chain. Hb La Desirade exhibits a decreased oxygen affinity and normal heme-heme interaction. Interestingly, on analysis by standard electrophoresis, it migrates in the same region as normal HbA, and HbA actually represents a combination of HbA and Hb La Desirade together. This variant was reported as compound heterozygous with other Hemoglobin variants such as HbS, HbC or beta thalassemia, and more recently with Southeast Asian ovalocytosis and Hb Louisville with varying clinical manifestations.  Herein, we describe the clinical and laboratory findings in a number of Omani Arab families who presented to our service for various reasons, presenting with Hemoglobin La Desirade with sickle gene and alpha thalassemia. Our patients with Hb La Desirade trait, were clinically asymptomatic with no evidence of anemia. However when it is associated with other abnormal hemoglobin variants such as HbS, leading to sickle/La Desirade compound heterozygosity, there was mild anemia with significant degree of hypochromia and microcytosis. The most striking feature was that the levels of HbS and HbA were almost equal on HPLC, and these cases could be misdiagnosed as sickle cell trait (SCT). However, the levels of Hb S in these compound heterozygotes (40.4-45.9) were higher than normally seen for the diagnosis of SCT in this population.  

THALASSEMIA SYNDROME AND OTHER HEMOGLOBINOPATHIES: A SINGLE THALASSEMIA CENTRE EXPERIENCE FROM TERTIARY CARE HOSPITAL OF PURULIA

2021 ◽  
pp. 23-25
Author(s):  
Sudipta Bera ◽  
Tapobrata Biswas ◽  
Anuradha Sinha ◽  
Anindya Adhikari
Keyword(s):  
High Performance ◽  
Tertiary Care Hospital ◽  
Sickle Cell Trait ◽  
Tertiary Care ◽  
Clinical History ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Care Hospital ◽  
Increased Risk ◽  
Thalassemia Trait

Background: Hemoglobinopathies are one of the major health burden globally including India and Southeast Asian region. This study was carried out to nd out the prevalence of β-thalassemia, HbS, HbD, HbE as well as identication of asymptomatic carriers who have an increased risk of having a child with thalassemia in the western part of West Bengal. Materials and methods: In this retrospective cohort study, the data was collected from all newly registered patients with anemia, referred from different outdoor patients in a tertiary care hospital, attending thalassemia clinic over a period of 3 years from January2018 to December2020. Detailed clinical history was taken and blood samples collected are tested with Sysmex automated blood cell counter for red cell indices. Diagnosis of hemoglobinopathy was done by G8 HPLC (high performance liquid chromatography) Analyzer by TOSOH Bioscience. Results: A total 2297 cases were studied during the study period. The age of the patients ranged between 6 months to 60 years. Higher percentage of the study sample was at age of more than 10 years (93.8%). Among 2297 cases, 477 cases showed abnormal Hb fractions on HPLC. The following Hb abnormalities detected were following: β (beta) thalassemia trait 13.2%, β thalassemia major 2.3% followed by sickle cell trait 2.17%, HbE trait 1.8%, HbS disease 0.21%, Hb E disease 0.13%, hereditary persistence of fetal hemoglobin (HPFH) traits 0.17% and Hb D trait 0.08% along with HbE-β-thalassemia 0.30% and HbS-β-thalassemia 0.26%. Conclusion: Among the hemoglobinopathies, β-thalassemia trait (12.9%) is prevalent in western part of Bengal.

scholarly journals Hunt for the Hidden Trait

2009 ◽  
Vol 1 (01) ◽  
pp. 015-018
Author(s):  
Vanamala Alwar ◽  
Reeti Kavdia ◽  
Nandini Singh ◽  
Karuna Rameshkumar
Keyword(s):  
Screening Tool ◽  
Sickle Cell Trait ◽  
Hemoglobin Concentration ◽  
Mean Corpuscular Hemoglobin ◽  
Corpuscular Hemoglobin ◽  
Peripheral Smear ◽  
Distribution Width ◽  
Red Blood Cell Count ◽  
Thalassemia Trait ◽  
Careful Screening

ABSTRACT Objective: To assess the efficacy of a peripheral smear examination as a screening tool for β-thalassemia trait. Materials and Methods: 17 623 Leishman-stained peripheral smears were evaluated during the period from July 2006 to September 2007. The following parameters were studied: hemoglobin, red blood cell count, mean corpuscular volume, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration and red cell distribution width. All the cases that showed microcytosis, hypochromia, erythrocytosis and absence of anisopoikilocytosis were suspected of having the thalassemia trait (TT), and all these cases were further evaluated with Alkaline Hemoglobin Electrophoresis for confirmation. Results: Of the 17 623 smears examined, 60 cases were considered suspicious of having TT. Alkaline hemoglobin electrophoresis carried out on all these cases revealed an elevated HbA 2 (Mean = 7.5%). Five cases evaluated were found to have other hemoglobinopathies (1 Sickle cell trait, 3 Hb-E, 1 thalassemia intermedia). Conclusion: Careful screening of peripheral smear is an invaluable screening tool for thalassemia trait (PPV - 95%). There must be awareness among the peripheral centers about the importance of peripheral smear screening and the affected persons should be counseled.

Frequencies of thalassemia in American blacks

Blood ◽  
1977 ◽  
Vol 49 (6) ◽  
pp. 981-986 ◽  
Author(s):  
HI Pierce ◽  
S Kurachi ◽  
K Sofroniadou ◽  
G Stamatoyannopoulos
Keyword(s):  
Black Males ◽  
Healthy Adult ◽  
Beta Thalassemia ◽  
Mean Corpuscular Hemoglobin ◽  
Alpha Thalassemia ◽  
Thalassemia Trait ◽  
Globin Synthesis ◽  
Chain Synthesis ◽  
Globin Chain Synthesis ◽  
American Blacks

Abstract The frequency of thalassemia was determined in a group of 541 healthy adult black males. Individuals with decreased mean corpuscular hemoglobin (MCH) values were evaluated further with hemoglobin analysis, iron studies, and globin chain synthesis. Of the males screened, 13.4% had MCH levels below 27.0 pg, while 1.4% had heterozygous beta thalassemia, 2.3% had iron deficiency, and 5.7% had globin synthesis findings compatible with the diagnosis of alpha thalassemia trait (alpha thalassemia-1). This study suggests that thalassemia is one of the most frequent hematologically depictable abnormalities in American blacks.

Frequencies of thalassemia in American blacks

Blood ◽  
1977 ◽  
Vol 49 (6) ◽  
pp. 981-986 ◽  
Author(s):  
HI Pierce ◽  
S Kurachi ◽  
K Sofroniadou ◽  
G Stamatoyannopoulos
Keyword(s):  
Black Males ◽  
Healthy Adult ◽  
Beta Thalassemia ◽  
Mean Corpuscular Hemoglobin ◽  
Alpha Thalassemia ◽  
Thalassemia Trait ◽  
Globin Synthesis ◽  
Chain Synthesis ◽  
Globin Chain Synthesis ◽  
American Blacks

The frequency of thalassemia was determined in a group of 541 healthy adult black males. Individuals with decreased mean corpuscular hemoglobin (MCH) values were evaluated further with hemoglobin analysis, iron studies, and globin chain synthesis. Of the males screened, 13.4% had MCH levels below 27.0 pg, while 1.4% had heterozygous beta thalassemia, 2.3% had iron deficiency, and 5.7% had globin synthesis findings compatible with the diagnosis of alpha thalassemia trait (alpha thalassemia-1). This study suggests that thalassemia is one of the most frequent hematologically depictable abnormalities in American blacks.

scholarly journals A Retrospective Assessment of Prevention and Treatment of Iron Deficiency Amongst Patients Requiring Peripartum Transfusion

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 1264-1264
Author(s):  
Heather Vandermeulen ◽  
Yulia Lin ◽  
Anne McLeod ◽  
Jon Barrett ◽  
Michelle Sholzberg ◽  
...  
Keyword(s):  
Iron Deficiency ◽  
Blood Cell ◽  
Red Blood Cell ◽  
Red Blood Cell Transfusion ◽  
Beta Thalassemia ◽  
Alpha Thalassemia ◽  
Iron Deficient ◽  
Thalassemia Minor ◽  
Thalassemia Trait ◽  
In Pregnancy

Abstract Background: Iron deficiency is common and affects nearly 18% of pregnant women in the United States. This is attributable to both poor baseline stores in young women and the high iron requirements of pregnancy; a singleton pregnancy results in a net loss of 630 mg of iron. Both maternal and fetal outcomes are impacted by iron deficiency. There are higher rates of maternal postpartum depression, fetal growth restriction, prematurity and developmental delay when mothers are iron deficient in pregnancy. It is also important to avoid transfusions in women of child bearing age, due to the risks of alloimmunization and hemolytic disease of the newborn. Since iron deficiency is the most common cause of anemia in pregnant women, we sought to assess the prevalence of iron deficiency in women receiving peripartum red blood cell transfusions. Materials and Methods: This study is a retrospective quality review of all cases of peripartum transfusion at an academic centre caring for high risk pregnancies from January 2013 to July 2018. All women admitted to the Labor and Delivery ward who received a red blood cell transfusion were identified through electronic blood bank database. We also identified the next age-matched woman to deliver who was not transfused. Charts were reviewed for risk factors for iron deficiency, evidence of prior iron deficiency, iron supplementation during pregnancy and fetal outcomes such as birth weight, gestational age at delivery, NICU admission and fetal mortality. A detailed transfusion history was recorded for women who received peripartum transfusions, including peritransfusion hemoglobins and indication for transfusion. Results: To date, 120 cases of peripartum red blood cell transfusion have been reviewed. Of these, 19 patients were excluded due to chronic anemia unrelated to iron deficiency or pregnancy (e.g., chronic renal failure). Age matched controls have been identified and are pending review. Preliminary data suggests that the majority of red cell transfusions given in the peripartum period are to women experiencing antepartum (26%) and/or postpartum (63%) hemorrhage. Thirty seven percent of women who were transfused had documented anemia in pregnancy and 51% of women were iron deficient in pregnancy (ferritin <30 ng/mL). Twenty one percent of women in the transfused group were noted to have pre-existing iron deficiency before conceiving. In the transfused cohort, six patients were identified as having alpha thalassemia trait (3 cases) or beta thalassemia minor (3 cases). Discussion: We present the preliminary results of a retrospective review of cases of peripartum red cell transfusion at an academic centre. Although a significant portion of transfusions were unavoidable and attributable to hemorrhage, it may be possible to decrease the number of units these women require. Over half of women who were transfused had documented iron deficiency in pregnancy. This raises the question of how many units of red blood cells could have been saved by appropriately treating these patients' iron deficiency. It is also clear in the literature that iron deficiency is associated with multiple poor fetal and maternal outcomes; we have identified an opportunity to improve the care of these women and their babies. We plan to feed this information back to the Obstetrical caregivers at our centre and to help educate providers about the recognition and treatment of iron deficiency in pregnancy. The high rate of transfusion amongst patients with alpha thalassemia trait and beta thalassemia minor warrants further investigation, but may highlight a knowledge gap around transfusion triggers for these patients. Disclosures No relevant conflicts of interest to declare.

scholarly journals Genetic Analysis in the Tanzania Sickle Surveillance Study (TS3): Modifiers of Sickle Cell Disease and Identification of Hemoglobin Variants

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 988-988 ◽  
Author(s):  
Luke R. Smart ◽  
Emmanuela E. Ambrose ◽  
Mwesige Charles ◽  
Arielle G. Hernandez ◽  
Teresa S. Latham ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Board Of Directors ◽  
Sickle Cell ◽  
G6pd Deficiency ◽  
Sickle Cell Trait ◽  
Cell Disease ◽  
Advisory Committees ◽  
Alpha Thalassemia ◽  
Hemoglobin Variants ◽  
Thalassemia Trait

Introduction. Based on sparse historical data, Tanzania ranks fourth globally for the estimated number of annual births with sickle cell disease. Northwest Tanzania is projected to have an especially high burden of sickle cell disease, but no contemporary surveillance data exist to verify this projection. We designed a large prospective study to determine the prevalence of both sickle cell trait and sickle cell disease in northwest Tanzania. Additional objectives included an analysis of two known genetic modifiers of sickle cell disease [alpha thalassemia trait and glucose-6-phosphate dehydrogenase (G6PD) deficiency], as well as genetic variants affecting fetal hemoglobin (HbF) expression and characterization of hemoglobin variants. Methods. The Tanzania Sickle Surveillance Study (TS3) is a prospective cross-sectional study to determine the prevalence of sickle cell trait and disease in an area projected to be at high risk. Dried blood spots (DBS) from all children born to HIV-infected mothers in the 9 regions across northwest Tanzania were collected by the HIV Early Infant Diagnosis (EID) program and transported to a central laboratory at Bugando Medical Centre, a teaching and consultancy hospital in Mwanza. DBS were tested by isoelectric focusing and scored as normal, trait, disease, or variant. Samples scored as disease or variant were retested for confirmation, and then frozen for subsequent genetic analysis. In the US, genomic DNA was extracted from each DBS, and sickle cell disease status was confirmed by PCR and TaqMan genotyping. All confirmed samples were then analyzed for alpha thalassemia trait (rightward -3.7 gene deletion) using quantitative real time PCR, and for G6PD deficiency using three real time PCR probes to distinguish A and B G6PD isoforms, to identify the G6PD A- variant, and to confirm the sex, respectively. Single nucleotide polymorphisms within 3 quantitative trait loci [BCL11A, the HBS1L-MYB intergenic polymorphism (HMIP) region, and the gamma-globin promoter XmnI site] that modify baseline HbF were analyzed using TaqMan genotyping. DBS with hemoglobin variants were investigated for the presence of common variants found in East Africa. Results. Between February 2017 and May 2018, a total of 232 IEF gels were completed by local staff in Tanzania. Among EID samples from children &lt;24 months of age, the median age was 52 days (IQR 41-93 days), and 17,278 unique DBS samples were scored. With 20 samples uninterpretable and 54 samples with missing results, the primary analysis was performed on 17,204 samples. The overall prevalence of sickle cell trait and disease in the entire cohort was 20.3% and 1.2%, respectively, for a sickle allele frequency of 0.114 with Hardy-Weinberg equilibrium. There was some geographical variation between individual districts in both sickle trait (15.2-27.8%) and disease (0.0-4.3%). Hemoglobin variants were rare (0.1%) and included 4 Hb G-Pest, 2 Hb Kenya, and 1 Hb P-Nilotic. Of 143 DBS confirmed to have sickle cell disease and available for further testing, 61 (43%) had one-gene deletion alpha thalassemia trait and 21 (15%) had two-gene deletion. A- G6PD deficiency was detected in 19.2% of males, and 25.7% of females were heterozygous carriers. The minor allelic frequency for known modifiers of HbF were 32.2% C at rs11886868 (BCL11A), 26.6% T at rs1427407 (BCL11A), 32.5% A at rs4671393 (BCL11A), 23.8% G at rs28384513 (HMIP), 4.5% C at rs9399137 (HMIP), and 0% A at rs7482144 (XmnI). Conclusion. The prevalence of sickle cell trait and disease among infants in northwest Tanzania is very high, exceeding 20% trait and 1.2% disease. Regional prevalence data paired with region-specific crude birth rates predict 10,055 births annually in the northwest regions, more than doubling previous estimates. Concomitant alpha thalassemia trait and G6PD deficiency are frequently co-inherited and may affect the phenotype, as well as common genetic modifiers of HbF expression. Our detailed genetic analysis of a geographically representative surveillance cohort provides a foundation for future targeted screening and the introduction of hydroxyurea for treatment of sickle cell disease in northwest Tanzania. Disclosures Ware: Bristol Myers Squibb: Other: Research Drug Donation; Addmedica: Other: Research Drug Donation; Global Blood Therapeutics: Membership on an entity's Board of Directors or advisory committees; Agios: Membership on an entity's Board of Directors or advisory committees; Nova Laboratories: Membership on an entity's Board of Directors or advisory committees; CSL Behring: Membership on an entity's Board of Directors or advisory committees; Novartis: Other: DSMB.

Enhanced phagocytosis of ring-parasitized mutant erythrocytes: a common mechanism that may explain protection against falciparum malaria in sickle trait and beta-thalassemia trait

Blood ◽  
2004 ◽  
Vol 104 (10) ◽  
pp. 3364-3371 ◽  
Author(s):  
Kodjo Ayi ◽  
Franco Turrini ◽  
Antonio Piga ◽  
Paolo Arese
Keyword(s):  
Falciparum Malaria ◽  
G6pd Deficiency ◽  
Sickle Cell Trait ◽  
Plasmodium Falciparum Malaria ◽  
Beta Thalassemia ◽  
Common Mechanism ◽  
Case Control Studies ◽  
Hemoglobin C ◽  
Alpha Thalassemia ◽  
Thalassemia Trait

Abstract High frequency of erythrocyte (red blood cell [RBC]) genetic disorders such as sickle cell trait, thalassemia trait, homozygous hemoglobin C (Hb-C), and glucose-6-phosphate dehydrogenase (G6PD) deficiency in regions with high incidence of Plasmodium falciparum malaria and case-control studies support the protective role of those conditions. Protection has been attributed to defective parasite growth or to enhanced removal of the parasitized RBCs. We suggested enhanced phagocytosis of rings, the early intraerythrocytic form of the parasite, as an alternative explanation for protection in G6PD deficiency. We show here that P falciparum developed similarly in normal RBCs and in sickle trait, beta- and alpha-thalassemia trait, and HbH RBCs. We also show that membrane-bound hemichromes, autologous immunoglobulin G (IgG) and complement C3c fragments, aggregated band 3, and phagocytosis by human monocytes were remarkably higher in rings developing in all mutant RBCs considered except alpha-thalassemia trait. Phagocytosis of ring-parasitized mutant RBCs was predominantly complement mediated and very similar to phagocytosis of senescent or damaged normal RBCs. Trophozoite-parasitized normal and mutant RBCs were phagocytosed similarly in all conditions examined. Enhanced phagocytosis of ring-parasitized mutant RBCs may represent the common mechanism for malaria protection in nonimmune individuals affected by widespread RBC mutations, while individuals with alpha-thalassemia trait are likely protected by a different mechanism. (Blood. 2004;104:3364-3371)

scholarly journals Frequencies of Abnormal Haemoglobin Electrophoretic Patterns in Hemolytic Anemia cases in District Swat.

2020 ◽  
Vol 10 (2) ◽  
Author(s):  
Amin Ullah ◽  
Amreek Lal ◽  
Siyab Ahmad ◽  
Akhtar Nawab ◽  
Salman Khan ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Genetic Disorder ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Cell Disease ◽  
Electrophoretic Patterns ◽  
One Year ◽  
Complete Blood Counts

Background: Thalassemia is a genetic disorder due to deletion or mutation in the gene for alpha or beta chain of hemoglobin. Thalassemia, sickle cell disease, HbD, HbE, HbC and other such disorders are genetic defects associated with hemolytic anemia's and other complications. The prevalence of these are significantly growing in Pakistan especially in the northern areas of Pakistan. Its prompt detection is of paramount importance, both for the prevention of thalassemia major and clinically severe other hemoglobinopathies as well as for the epidemiological purposes.Objective: To assess the frequencies of abnormal hemoglobin variants in the suspected cases of hemolytic anemia's, in the population of district swat. Material and Methods: A total of 1832 suspected cases of hemolytic anemias admitted in SGTH/SMC were assessed after taking clinical and familial history. Whole blood samples were collected in EDTA tube; complete blood counts with peripheral smears were prepared. All samples were processed with fully automatic micro capillary hemoglobin electrophoretic movability (SEBEA micro capillary electrophoresis).Results: A normal Hb pattern was observed in 1224 (66.81%) cases and abnormalities were detected in 608 (33.18%) cases. â (beta) thalassemia trait was the commonest abnormality found in 477 (26.03 %) patients followed by â thalassemia major 53 (2.89 %), â thalassemia intermedia 24 (1.31 %), raised HbF for age review after one year 17 (0.92 %), Sickle cell trait 9 (0.49 %), Sickle cell disease 8 (0.43 %), sickle/beta-thalassemia 6 (0.32 %) HbD Trait 5 (0.27 %), HbE (0.21%) and HbC (0.10%) were common hemoglobinopathies.Conclusion: Amongst hemoglobinopathies, â- (beta) thalassemia and sick cell trait/disease is the most common of the hemoglobinopathies in the study area.

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