title: Molecular basis of Hb H disease in southwest Iran.
abstract: Although alpha0-thalassemia (thal) defects are not very frequent in the Iranian population, Hb H disease does occur in the country. We have analyzed the alpha gene cluster of 13 patients showing the presence of Hb H to establish the molecular background of this disease in southwest Iran (Shiraz and Hormozgan provinces). Using gap-polymerase chain reaction (gap-PCR) and direct DNA sequencing we have found the --MED-I deletion, the polyadenylation signal (poly A) mutations alphaT-Saudi alpha and alphaT-Turkish alpha and Hb Constant Spring (Hb CS) in association with the common -alpha3.7 deletion. This study has revealed that: 1) at least six genotypes are responsible for Hb H disease in the area: .-alpha3.7/ --MED-I; -alpha3.7/alphaT-Saudi alpha; alphaT-Saudi alpha/alphaT-Saudi alpha; alphaCSalpha/--MED-I; --MED-I/alphaT-Turkish alpha; and the atypical forms of Hb H disease -alpha3.7/alphaCSalpha. 2) The molecular background of Hb H disease in the southwest area of Iran is more similar to the Mediterranean type than to the Southeast Asian. 3) Hb Bart's hydrops fetalis syndrome and mild, intermediate or severe postnatal Hb H disease conditions can be expected, but at a relatively low incidence. 4) The diagnostic flowchart for patients with microcytic hypochromic anemia should include iron deficiency, beta-thal, alpha+- and alpha0-thal analyses.
authors.affiliation: Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, AL Leiden, The Netherlands.
authors.forename: Majid
authors.initials: M
authors.lastname: Yavarian
authors.forename: Mehran
authors.initials: M
authors.lastname: Karimi
authors.forename: Amine
authors.initials: A
authors.lastname: Zorai
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
mesh_terms: D000740:Anemia / Q000453:epidemiology / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D005820:Genetic Testing; D006447:Hemoglobin H / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D007492:Iran; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D006455:Hemoglobins, Abnormal; D006447:Hemoglobin H