Rationale and Objectives: Hemoglobinopathies are among the most commonly inherited genetic disorders in humans considered as a major public health problem Saudi Arabia. The prevalence of hemoglobinopathies is severe threat to society future generations if assessment pre-marriage cohorts not monitored. purpose this study analyze type relation age, gender mutations assess cohort. Materials Method...

Inherited hemoglobin disorders like alpha thalassemia and sickle gene are common in the Indian subcontinent. These disorders in the heterozygous state act as malaria resistance genes and influence the susceptibility to Plasmodium falciparum malaria. There is inadequate knowledge about the epidemiology of these malaria resistance genes in the tribal dominated malaria endemic region of the state ...

Sickle cell disease (SCD) results from a single amino acid substitution in the gene encoding the -globin subunit ( 6Glu > Val) that produces the abnormal hemoglobin (Hb) named Hb S. SCD has different genotypes with substantial variations in presentation and clinical course (Table 1).1,2 The combination of the sickle cell mutation and beta-thalassemia ( -Thal) mutation gives rise to a compound h...

Sickle cell disease is a hereditary, autosomal recessive pathology caused by the replacement of adenine thymin in position 6 beta globin gene, producing anomalous hemoglobin (hemoglobin S- HbS). It characterized chronic inflammatory state with hemolytic anemia and vaso-occlusive phenomena occurs when HbS gene homozygosis (SS) or heterozygosis, association other variant hemoglobins (SD, SC, SE) ...

We report a case of TTP in a sickle cell/β+-thalassemia heterozygote with nonspecific complaints and a evidence of hemolysis, initially attributed to sickle crisis. Included in this case is a discussion of the development of functional hyposplenism, a rarely reported complication, limitation of ADAMTS-13 in diagnosis, and the use of platelet transfusion.

Sickle cell-thalassemia is known to be a severe type of congenital haemolytic anaemia. Mild or asymptomatic cases have been previously described in literature. We report an unusual case of a 6 year old sicilian boy who presented recurrent episodes of bone pain undervalued for a long time and wrongly diagnosed as pain of growth. On our investigation he was detected to have sickle !+-thalassemia....

In five patients with sickle beta-thalassemia there was balanced alpha- and beta-globin synthesis in the bone marrow and decreased total beta-chain synthesis relative to that of alpha-chain in the peripheral blood. These findings are similar to those in patients with simple beta-thalassemia trait. Despite a range of hemoglobin concentrations from 6.8 to 12.5 g/100 ml in the patients with sickle...

BACKGROUND We aimed to determine the incidence of co-inheritance as well as interaction of sickle cell trait (SCT) and α(thal)/β(thal) mutations in south and south central of Iran. METHOD We employed a PCR and restriction fragment length polymorphism techniques to confirm diagnosis of sickle cell trait. All subjects were screened for any α/β -thalassemia mutations using a gap-polymerase chain...

Background and Objectives. β-Thalassemia and sickle cell disease are genetic disorders characterized by reduced and abnormal β-globin chain production, respectively. The elevation of fetal hemoglobin (HbF) can ameliorate the severity of these disorders. In sickle cell disease patients, the HbF level elevation is associated with three quantitative trait loci (QTLs), BCL11A, HBG2 promoter, and HB...