Haemoglobin F (HbF) levels in sickle‐cell anaemia patients homozygous for the Bantu haplotype

Mouélé, René; Galactéros, Frédéric; Feingold, Josué

doi:10.1111/j.1600-0609.1999.tb01128.x

Cited by 10 publications

(3 citation statements)

References 12 publications

(4 reference statements)

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“…We evaluated the influence of genetic factors on Hb F level, on the level of the biochemical parameters related to hemolysis, and the occurrence of overt ischemic stroke. The participants in this study showed a mean level of Hb F of 8.9 ± 6.4% which is similar to values reported by other studies on African SCA children, e.g., from Nigeria, Uganda, or Congo Republic, who presented 9.9 ± 6.0% [31], 9.0 ± 5.6% [32], and 8.8 ± 5.8% [33], respectively. Nevertheless, in other studies, lower values of Hb F have been reported for African SCA populations [34][35][36][37].…”

Section: Discussionsupporting

confidence: 89%

Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrence in African descendant children with sickle cell anemia

et al. 2019

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Sickle cell anemia (SCA) is an autosomal recessive monogenic disease with significant clinical variability. Cerebrovascular disease, particularly ischemic stroke, is one of the most severe complications of SCA in children. This study aimed to investigate the influence of genetic variants on the levels of fetal hemoglobin (Hb F) and biochemical parameters related with chronic hemolysis, as well as on ischemic stroke risk, in ninety-one unrelated SCA patients, children of sub-Saharan progenitors. Our results show that a higher Hb F level has an inverse relationship with the occurrence of stroke, since the group of patients who suffered stroke presents a significantly lower mean Hb F level (5.34 ± 4.57% versus 9.36 ± 6.48%; p = 0.024). Furthermore, the co-inheritance of alpha-thalassemia improves the chronic hemolytic pattern, evidenced by a decreased reticulocyte count (8.61 ± 3.58% versus 12.85 ± 4.71%; p < 0.001). In addition, our findings have confirmed the importance of HBG2 and BCL11A loci in the regulation of Hb F expression in sub-Saharan African SCA patients, as rs7482144_A, rs11886868_C, and rs4671393_A alleles are significantly associated with a considerable increase in Hb F levels (p = 0.019, p = 0.026, and p = 0.028, respectively). Concerning KLF1, twelve different variants were identified, two of them novel. Seventy-three patients (80.2%) presented at least one variant in this gene. However, no correlation was observed between the presence of these variants and Hb F level, severity of hemolysis, or stroke occurrence, which is consistent with their in silico-predicted minor functional consequences. Thus, we conclude that the prevalence of functional KLF1 variants in a sub-Saharan African background does not seem to be relevant to SCA clinical modulation.

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Section: Discussionsupporting

confidence: 89%

Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrence in African descendant children with sickle cell anemia

et al. 2019

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“…The mean of HbF in our study population was 6.35%. This rate is similar to that reported in previous African studies [ 20 , 24 , 25 , 31 – 33 ]. However, the rate of HbF in our cohort was slightly low in comparison with arabo-indian haplotypes [ 34 , 35 ].…”

Section: Discussionsupporting

confidence: 92%

Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients

et al. 2015

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BackgroundSickle cell anemia is an inflammatory disease and is characterized by chronic hemolysis. We sought to evaluate the association of lactate dehydrogenase levels with specific clinical phenotypes and laboratory variables in patients with sickle cell anemia.MethodsThe present cross-sectional study was conducted in Sickle Cell Centre of Yolo in Kinshasa, the Democratic Republic of Congo. Two hundred and eleven patients with Sickle Cell Anemia in steady state were recruited. Seventy-four participants with normal Hb (Hb-AA) were selected as a control group.ResultsThe average rates of hemoglobin, hematocrit, and red blood cells tended to be significantly lower in subjects with Hb-SS (p<0.001). The average rates of white blood cells, platelets, reticulocytes and serum LDH were significantly higher in subjects with Hb-SS (p<0.001). The average rates of Hb, HbF, hematocrit and red blood cells of Hb-SS patients with asymptomatic clinical phenotype were significantly higher than those of the two other phenotypes. However, the average rates of white blood cells, platelets, reticulocytes, and LDH of Hb-SS patients with the severe clinical phenotype are higher than those of two other clinical phenotypes. Significant correlations were observed between Hb and white blood cell in severe clinical phenotype (r3 = -0.37 *) between Hb and red blood cells in the three phenotypes (r1 = 0.69 * r2 * = 0.69, r3 = 0.83 *), and finally between Hb and reticulocytes in the asymptomatic clinical phenotype and severe clinical phenotype (r1 = -0.50 * r3 = 0.45 *). A significant increase in LDH was observed in patients with leg ulcer, cholelithiasis and aseptic necrosis of the femoral head.ConclusionThe increase in serum LDH is accompanied by changes in hematological parameters. In our midst, serum LDH may be considered as an indicator of the severity of the disease.

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“…The most serious cases can be devastating within the first few years of life if they are not treated effectively. [3] The principal pathophysiology is focused on deoxyHbS polymerization and the development of long fibers within red blood cells (RBCs), resulting in a twisted sickle shape, which contributes to intensified hemolysis and sickle red cell vasoocclusion. [4] The clinical appearance of SCD patients, on the other hand, is incredibly complicated, and many events can lead to vaso-occlusion.…”

Section: Introductionmentioning

confidence: 99%

A Prospective Study on Haemotological Profile of Sickle Disease

Kinjal G. Patel,

Chintu Chaudhari

2023

IARJMSR

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Background: Sickle cell disease (SCD) refers to a category of inherited hemoglobin (Hb) disorders. The pathophysiology of sickle Hb (HbS) variant emerges from the polymerization of the ensuing HbS variant, which triggers a chain of erythrocyte alterations and the disorder is known to be caused by a single-nucleotide substitution at position 6 of the globin gene. Both acute and chronic sequelae cause significant morbidity in people with sickle cell anemia (SCA). Methods: This prospective cross-sectional study was conducted in the Department of Pediatrics and Sickle Cell Anemia Laboratory, Department of Pathology, Prathima institute of medical sciences, Karimnagar India, between June 2019-Feb 2020.Most of patients were from tribal background and lower socioeconomic status. Before conducting the study, permission was obtained from the Ethical Clearance Committee. Results: A total of 37 children’s homozygous (SS) (mean age 11.6±3.4 years) for sickle cell anaemia was studied for their haematological parameters. Out of the total SS subjects, 26 were males and 11 were females. Males to female’s sex ratio: 2.3. 6 years to 14 years of childrens were taken. Mean (SD) age of male was 9.4 (3.29) years whereas SD age of female was 9.59 (3.59) years. Haematological value of study are mentioned below. Conclusion: We conclude that moderate to severe anemia with, lowMCV and high HbF dominate the hematological profile.

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Haemoglobin F (HbF) levels in sickle‐cell anaemia patients homozygous for the Bantu haplotype

Cited by 10 publications

References 12 publications

Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrence in African descendant children with sickle cell anemia

Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrence in African descendant children with sickle cell anemia

Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients

A Prospective Study on Haemotological Profile of Sickle Disease

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