Genotype-phenotype correlation in Iranian patients with Hb H disease.
Thalassemia is the most common genetic disorder in Iran. Some α-globin genotypes leading to Hb H disease may cause severe anemia and dependence on regular blood transfusions. In this study, 40 patients were analyzed for the molecular basis and the genotype-phenotype correlation of Hb H disease in Iran. α-Globin molecular analysis was performed by polymerase chain reaction (PCR) followed by agarose gel electrophoresis, reverse hybridization test strips or DNA sequencing. The most frequently observed α-globin genotypes were -α(3.7)/- -(MED) in 10 patients (25%), - -(20.5)/α(-5nt)α in six patients (15%) and - -(20.5)/-α(3.7) in four patients (10%). A subset of the identified Hb H genotypes, including - -(MED)/α(CS)α, - -(MED)/α(PolyA2)α and α(CS)α/α(CS)α, was associated with a need for regular or irregular blood transfusions. Our findings provide a basis for predicting phenotype severity by identifying the Hb H genotype and making more selective decisions for prenatal diagnosis.
Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
Saedieh
S
Ebrahimkhani
Azita
A
Azarkeivan
Nooshin
N
Bayat
Mahdieh
M
Houry-Parvin
Sayeh
S
Jalil-Nejad
Shima
S
Zand
Zahra
Z
Golkar
Valeh
V
Hadavi
Hashem
H
Imanian
Christian
C
Oberkanins
Hossein
H
Najmabadi
D000328:Adult; D000740:Anemia / Q000235:genetics; D001803:Blood Transfusion; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006403:Hematologic Tests; D006447:Hemoglobin H / Q000235:genetics*; D006801:Humans; D007492:Iran; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012720:Severity of Illness Index; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology
D055542:alpha-Globins; D006447:Hemoglobin H