background: beta thalassemia gene mutations are among common mutations in southwest iran. however, hemoglobin e (hb e) and hb e/β⁰ thalassemia account for a small number of hemoglobinopathies in iran. this is the first study to directly address the existence of hb e and consequently hb e/β⁰ thalassemia in southwest iran. methods: this retrospective study discovered seven cases of hb e/β⁰ thalas...

Background: Beta thalassemia gene mutations are among common mutations in southwest Iran. However, Hemoglobin E (Hb E) and Hb E/β⁰ thalassemia account for a small number of hemoglobinopathies in Iran. This is the first study to directly address the existence of Hb E and consequently Hb E/β⁰ thalassemia in southwest Iran. Methods: This retrospective study discovered seven cases of Hb E/β⁰ thal...

Since the first observation of hemoglobin S (Hb S) in Turkey by Aksoy, the number of hemoglobin variants reported was increased. Beta globin gene cluster haplotypes are being used to determine the origin of the mutations under interest. We studied the beta globin gene cluster haplotypes for the six different abnormal hemoglobins which are Hb S, Hb D-Los Angeles, Hb G-Coushatta, Hb E, Hb E-Saska...

Molecular identification of affected alleles in the index family with rare mutation(s) and/or interaction(s) is an important prerequisite toward a proper genetic counseling. In Thailand, where more than 30% of the populations are heterozygotes for either α or β thalassemia mutation(s). More than 60 different thalassemia syndromes resulting from the interactions of these heterogeneous alleles ha...

Abstract   Introduction: Hemoglobin Constant Spring (Hb CS),  a abnormal Hb characterized by elongated α-globin chain resulting from mutations of the termination codon in the α2 - globin gene , is the most common nondelitional  α-thalassemic mutation and is an important cause of HbH like disease in Southeast Asia. Case Report: A 9- years-old female with immune hemolytic anemia and splenomegally...

AIMS To investigate whether it is worthwhile, in areas where thalassaemia is common, to screen for globin gene mutations in subjects with a mean corpuscular volume (MCV) above 80 fL, especially in partners of known thalassaemia carriers. METHODS Blood samples from 95 subjects with MCV between 80 and 85 fL were screened for the presence of alpha globin gene mutations and the haemoglobin (Hb) E...

frequently about 2 years after the development of PSCR, is an 11–13 ickle cell disease (SCD) is caused by a single point mutation t the sixth position in the -globin chain that substitutes he amino acid valine for glutamic acid resulting in sickle emoglobin (Hb S). Despite being characterized by the same oint mutation, the clinical course of SCD is extremely ariable, ranging from mild to very s...

Hemoglobin (Hb) E is one of the world's most common and important mutations. It results in a heterogeneous group of disorders whose phenotype range from asymptomatic to severe. Hb E trait and Hb EE are mild disorders. The combination of Hb E and Hb S (Hb SE) results in a sickle cell disease syndrome similar to sickle beta(+) thalassemia. It is important to distinguish Hb E disorders diagnostica...

We describe haematological and DNA characterization of haemoglobinopathies in Thai adolescents caused by compound heterozygosities for Hb E [beta26(B8) Glu-Lys] and two other beta-globin chain variants, Hb Pyrgos [beta83(EF7) Gly-Asp] and Hb J Bangkok [beta56(D7) Gly-Asp]. Hb analysis demonstrated that although these two beta-chain variants have separated elution profiles on liquid chromatograp...