STUDIES OF CONGENITAL HEMOLYTIC SYNDROMES

PEDIATRICS ◽  
1958 ◽  
Vol 22 (5) ◽  
pp. 910-922
Author(s):  
Marion E. Erlandson ◽  
Irving Schulman ◽  
Gertrude Stern ◽  
Carl H. Smith
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Fetal Hemoglobin ◽  
Severe Form ◽  
Intermediate Form ◽  
Transfusion Therapy ◽  
Effective Synthesis ◽  
Cooley's Anemia ◽  
Compensation Index

Rates of destruction of erythrocytes and of effective production of erythrocytes and hemoglobin have been determined in 10 patients with homozygous Cooley's anemia. The method employed was based upon survival of Cr51-labeled cells in patients in whom a state of equilibrium of erythrocytes was present. While a marked hemohytic defect is present, this defect does not, by itself, determine the degree of anemia present. Rates of effective production of erythrocytes are increased above normal but are not increased to the same degree found in patients with other hemolytic diseases. Rates of effective synthesis of hemoglobin were found to be less than those obtained for production of erythrocytes. The rates of production of fetal hemoglobin in these patients are remarkably elevated but cannot be directly correlated with the rate of destruction of erythrocytes, rate of production of erythrocytes, or the degree of anemia present. The hemolytic defect in patients with intermediate Cooley's anemia was comparable to that in the majority of the patients with the severe form of disease. However, the most marked hemolytic defects were among patients with the severe and not with the intermediate form of disease. Production of erythrocytes and hemoglobin did not differ significantly in the two forms of this disease. Results in two splenectomized patients did not differ significantly from results in the non-splenectomized group of patients. However, since pre-splenectomy data were not available, no statement may be made as to possible individual benefit derived from the operation. The final status of each patient is determined by the particular balance obtained between rates of destruction and production. Neither production nor destruction alone determines the degree of anemia. The compensation index, as a measure of final status in each patient, was lowest in the severe form of Cooley's anemia. It is presumed to be lower still in many patients who could not be studied because transfusion therapy was in progress. The compensation index is somewhat higher in patients with intermediate Cooley's anemia and in two splenectomized individuals not requiring frequent transfusions. Values in these patients approach the higher levels found in patients with sickle cell anemia and congenital spherocytosis.

scholarly journals Case Report: Cholelithiasis in Severe Mediterranean (Cooley’s) Anemia

Blood ◽  
1951 ◽  
Vol 6 (11) ◽  
pp. 1147-1151 ◽  
Author(s):  
CARL H. SMITH ◽  
JOAN E. MORGENTHAU
Keyword(s):  
Case Report ◽  
Biliary Tract ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Severe Form ◽  
Cooley's Anemia

Abstract A case of cholelithiasis is reported in a child with the severe form of Mediterranean anemia. The patient was one of a group of children with this disease but without biliary tract symptoms on whom a roentgenographic survey was carried out. Cholecystitis subsequently occurred in this patient, and a cholecystectomy was performed. Cholelithiasis occurs as a complication of severe Mediterranean anemia, less frequently than in spherocytic or in sickle cell anemia but on a comparable etiologic basis.

scholarly journals The Effect of Amelioration of Anemia on the Synthesis of Fetal Hemoglobin in Sickle Cell Anemia

Blood ◽  
1965 ◽  
Vol 25 (1) ◽  
pp. 37-48 ◽  
Author(s):  
L. JUDEN REED ◽  
THOMAS B. BRADLEY ◽  
HELEN M. RANNEY
Keyword(s):  
Blood Group ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Fetal Hemoglobin ◽  
Marked Rise ◽  
Transfusion Therapy ◽  
Blood Group A ◽  
Group A ◽  
Serial Samples

Abstract Two adult patients with sickle cell anemia of blood group A and A2B respectively, received sufficient transfusions of group O blood to maintain nearly normal hemoglobin concentrations for 4 months or longer. Serial samples of the erythrocytes of each recipient were obtained by agglutination with anti-A (and anti-B) serum. The proportion of Hb F in the agglutinated erythrocytes was determined. Early in the transfusion period, a marked rise in the proportion of Hb F was noted. This rise was attributed to prolonged survival of erythrocytes which contained larger proportions of Hb F. In the later part of the transfusion period, the proportion of fetal hemoglobin declined to pre-transfusion levels or below. However, significant amounts of fetal hemoglobin in the erythrocytes of each patient were demonstrated throughout the period of study, and Fe59 incorporation into Hb F in vivo was demonstrated in one patient after 4 months of transfusion therapy. Under the conditions of these studies, synthesis of Hb F continued despite prolonged correction of the anemia. A decline in the proportion of Hb F in the erythrocytes of one patient after 5 months of transfusions suggested that Hb F synthesis may ultimately be depressed by transfusions. It was suggested that the proportion of fetal hemoglobin observed in the erythrocytes might in certain diseases reflect the degree of anemia present many months before.

Hepatic Iron Overload in Children With Sickle Cell Anemia on Chronic Transfusion Therapy

2009 ◽  
Vol 31 (5) ◽  
pp. 309-312 ◽  
Author(s):  
Kathy Brown ◽  
Charu Subramony ◽  
Warren May ◽  
Gail Megason ◽  
Hua Liu ◽  
...  
Keyword(s):  
Iron Overload ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Hepatic Iron ◽  
Transfusion Therapy ◽  
Hepatic Iron Overload

Unexpected Anemia and Reticulocytopenia in an Adolescent With Sickle Cell Anemia Receiving Chronic Transfusion Therapy

2015 ◽  
Vol 37 (7) ◽  
pp. e438-e440
Author(s):  
Emily R. Blauel ◽  
Lily T. Grossmann ◽  
Madhav Vissa ◽  
Scott T. Miller
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Transfusion Therapy

Clinical epidemiology of individuals with Sickle cell anemia using Hydroxyurea at Muhimbili National Hospital, Dar Es Salaam, Tanzania

2020 ◽  
Vol 31 (1) ◽  
pp. 106-119
Author(s):  
Elisha Osati ◽  
Edward Kija ◽  
Florence Urio ◽  
Magdalena Lyimo ◽  
Siana Nkya ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Severe Pain ◽  
Clinical Epidemiology ◽  
Fetal Hemoglobin ◽  
Dar Es Salaam ◽  
Acute Chest Syndrome ◽  
Muhimbili National Hospital ◽  
National Hospital

Background: The pathophysiology of sickle cell disease (SCD) is complex and involves nitric oxide depletion, increased inflammation/adhesion molecules and vaso-occlusion in addition to the chronic hemolytic anemia. This pathophysiology results in systemic clinical complications including recurrent episodes of severe pain, stroke, acute chest syndrome (ACS) and an increased susceptibility to infection. SCD severity varies among individuals and fetal hemoglobin (HbF) is known as a major modulator of the disease. To date, hydroxyurea (HU) is a known intervention that acts by increasing HbF in individuals with SCD. The increase in HbF reduces the risk of ‘sickling’ events and improves clinical outcomes. This is the first study on the use of HU in individuals with SCA in Tanzania.Methods: A case-control study to determine the proportion, indications, clinical and laboratory outcomes of SCD patients with HU use was conducted at Muhimbili National Hospital in Dar Es Salaam, Tanzania.Results: Forty-two patients with Sickle cell anemia (SCA) on HU treatment and 32 patients with SCA not on HU treatment were enrolled. The proportion of HU use by individuals with SCA at Muhimbili National Hospital was 10 per 1000. The mean HbF % was 9.8 ± 2.4 vs 6.2 ±1.4 for controls (P <0.001). Thirty (71.4%) were enrolled for HU treatment due to central nervous system (CNS) events, frequent painful crises 11(26.2%) and recurrent anemia 1(2.4%). Thirty-two SCA patients (76.2%) reported improvements after being on HU for at least six months. Of these, 91% reported no history of severe pain that required hospitalizations since they started HU. Twenty patients (66.7%) out of those with CNS events reported not to have experienced convulsions after HU initiation.Conclusions: HbF was higher in patients who were on HU and had positive correlation with clinical outcomes. Further clinical trials are required to evaluate more effects of HU use among SCA individuals in Tanzania. Keywords: Sickle cell anemia, HU, Fetal hemoglobin, Tanzania.

scholarly journals Myth: Blood transfusion is effective for sickle cell anemia—associated priapism

CJEM ◽  
2006 ◽  
Vol 8 (02) ◽  
pp. 119-122 ◽  
Author(s):  
Andrew L. Merritt ◽  
Christopher Haiman ◽  
Sean O. Henderson
Keyword(s):  
Blood Transfusion ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Conventional Therapy ◽  
Case Reports ◽  
Complete Information ◽  
Effective Therapy ◽  
Transfusion Therapy ◽  
Medline Search ◽  
Neurologic Sequelae

ABSTRACTObjective:Priapism is a recognized complication of sickle cell anemia (SCA). When initial conventional treatments fail, simple or exchange blood transfusion has been advocated as a secondary intervention. However, recent literature suggests this may not be an effective therapy and may have significant neurologic sequelae. This paper reviews and summarizes the effectiveness and risks of blood transfusion compared with conventional priapism therapy.Methods:All relevant papers identified from a MEDLINE search were systematically examined for data related to the use of blood transfusion in the setting of priapism due to SCA. The effectiveness of conventional therapy was compared with transfusion therapy using the outcome of “time to detumescence” (TTD). In addition, papers documenting adverse neurologic sequela were reviewed and summarized.Results:Forty-two case reports were identified containing complete information with regard to patient age and TTD. The mean TTD was 8.0 days with conventional therapy (n= 16) and 10.8 days with blood transfusion therapy (n= 26). Adverse neurologic sequelae from blood transfusion therapy was described in 9 cases, with long term outcomes ranging from complete resolution to severe residual deficits.Conclusion:The current literature does not support the contention that blood transfusion is an effective therapy in the treatment of priapism due to SCA, as defined by an acceleration of TTD. In fact, numerous reports suggest that serious neurologic sequelae may result from this treatment. We feel the routine use of this therapy cannot be recommended.

MODULATION OF FETAL HEMOGLOBIN IN SICKLE CELL ANEMIA

Hemoglobin ◽  
2001 ◽  
Vol 25 (2) ◽  
pp. 195-211 ◽  
Author(s):  
Martin H. Steinberg
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Fetal Hemoglobin

ANTXR1 Intronic Variants Are Associated with Fetal Hemoglobin in the Arab-Indian Haplotype of Sickle Cell Disease

2018 ◽  
Vol 140 (1) ◽  
pp. 55-59 ◽  
Author(s):  
Zhara A. Al-Ali ◽  
Rana K. Fallatah ◽  
Esra A. Aljaffer ◽  
Eman R. Albukhari ◽  
Neriman Sadek Al-Ali ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Real Time Pcr ◽  
Genetic Variants ◽  
Fetal Hemoglobin ◽  
Genetic Mutations ◽  
Cell Disease ◽  
Hbf Level ◽  
Intronic Variants

Disease severity of sickle cell anemia is highly variable, and it is commonly accepted that fetal hemoglobin (HbF) levels play a major role as an ameliorating factor. Investigation of genetic variants have identified several genes to be the principal influencers of HbF regulation. Here, we further elucidated the association of rs4527238 and rs35685045 of ANTXR1 genes in the context of HbF level variance in sickle cell anemia patients of the Arab-Indian haplotype. Samples from 630 sickle cell anemia patients were analyzed for the mutations at 2 specific locations of the ANTXR1 gene by TaqMan®-based real-time PCR. The CC genotype (p = 0.018) of rs4527238 and the TT genotype (p = 0.048) of rs35685045 of ANTXR1 were found to be significantly associated with low HbF expression. The frequency of the CC genotype of rs4527238 was observed to be high in the low HbF patient group compared to the high HbF group (p = 0.009). Likewise, the frequency of the TT genotype of rs35685045 was also high among the low HbF group (p = 0.017). The ANTXR1 genetic mutations and the association with HbF expression in the Arab-Indian haplotype sickle cell patients revealed that the ANTXR1 gene may be a major HbF modulator leading to potential therapeutic options that should be further explored.

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