Hemoglobin Barts hydrops fetalis (homozygous a-thalassemia) results from deletion of all 4 a-globin genes. It was previously considered a universally fatal condition; however,with recent advances in prenatal care and the availability of intrauterine blood transfusions, an increasing number of patients are now surviving into adulthood. Similar to patients with transfusion-dependent thalassemia d...

hemoglobinopathies are the most common single gene disorders worldwide with a considerable frequency in certain area particularly mediterranean and middle eastern countries. hemoglobinopathies include structural variants of hemoglobin (hb s, hb c, hbe,…) and thalassaemias which are inherited defects in the globin chains synthesis. the present study was conducted to determine the prevalence of h...

BACKGROUND The present study is designed to evaluate the reliability and cost effectiveness of cellulose acetate Hb electrophoresis and high performance liquid chromatography (HPLC) in the determination of HbA2 levels. METHODS The test population comprised 160 individuals divided into four groups: normal individuals, β-thalassemia trait (BTT) patients, iron deficiency anemia (IDA) patients, a...

Pre-donation screening declarations and hemoglobin (Hb) testing are measures used to determine the quality of donated blood. The copper sulphate (CuSo4) method used to screen for blood abnormalities can give inaccurate results if strict quality control is not applied. Blood donors who are carriers of thalassemia and those with mild iron deficiency anemia (IDA) are usually asymptomatic and frequ...

There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Ir...

Abstract Background Prevalence of hereditary blood diseases such as sickle cell anemia, sickle thalassemia and thalassemia major are high in Khuzestan province. Sickle cell anemia and beta-thalassemia are predominantly common in Iranian Arabs. Pulmonary complications account for a large proportion of morbidity and mortality in patients with and sickle cell disease. Periodic lung function asse...

The a globin genotype of a total of 282 Indians from Orissa state has been analyzed. The overall a thalassemia gene frequency is 0.29. most frequently caused by the a3’7 and a42 deletions. In one family a novel a3” deletion removing the al globin gene with some of its flanking sequences has been found. suggesting further sequence homology of the a globin gene cluster 3’ to the al globin gene. P...

Haemoglobin (Hb)-M Hyde Park, also known as Hb-M Akita is a rare type of hereditary Hb M due to autosomal dominant mutation of CAC>TAC on codon 92 of β globin gene resulting in the replacement of histidine by tyrosine on β globin chain. This variant Hb has a tendency to form methaemoglobin (metHb). The iron ion in metHb is oxidized to ferric (Fe3+) which is unable to carry oxygen and the patien...

Coinheritance of hereditary spherocytosis (HS) and b thalassemia is very rare. HS is a familial haemolytic disorder resulting from primary abnormality of red cell membrane. It is transmitted as an autosomal dominant trait. b thalassemia is also a common inherited disorder. In Indians, the frequency of b thalassemia is reported between 3.5&14.9% [1]. The haemolytic anemia resulting from their co...

The clinical phenotype of sickle cell/beta+-thalassemia (Hb S/ +-Thal) is highly variable, and severity is associated with the quantitative degree of decrease in the production of the beta globin chains.1 Evidence shows that differences in the production of hemoglobin A (Hb A) and severity correspond to different molecular beta-thalassemia ( -Thal) mutations.2 A previous report proposed a class...