title: Hb Dhonburi (Neapolis) [beta126(H4)Val-->Gly] identified in a family from northern Iran.
abstract: Thalassemias are the most common hereditary diseases in Iran, resulting from synthesis defects in one or more hemoglobin (Hb) subunits. The majority of patients suffer from beta-thalassemia (thal), but cases with microcytic hypochromic anemia and normal electrophoretic patterns are suspected to have alpha- or silent beta-thal. A family from the northern part of Iran, an area highly prevalent for thalassemias, was referred to us for prenatal diagnosis. The hematological data of the father indicated a pattern of beta-thal minor. Reverse hybridization analysis for the most common beta-globin mutations identified IVS-II-1 (G-->A) in the heterozygous state. The maternal laboratory data indicated a case more compatible with alpha-thal. Iron deficient anemia was ruled out, and common alpha-thal point mutations and deletions were investigated. As no mutation was detected, chain synthesis was performed and showed an alpha/beta chain ratio of 2.1, that was in the range of beta-thal minor. DNA sequencing of the entire beta-globin gene identified a heterozygous GTG-->GGG (Val-->Gly) mutation at codon 126, also known as Hb Dhonburi (Neapolis). Prenatal diagnosis of the fetal DNA showed the absence of the IVS-II-1 and codon 126 anomalies. This result demonstrates the importance of screening of individuals with mild microcytic hypochromic anemia for both alpha- and silent beta-thal mutations.
authors.affiliation: Medical School, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Babak
authors.initials: B
authors.lastname: Moghimi
authors.forename: Majid
authors.initials: M
authors.lastname: Yavarian
authors.forename: Christian
authors.initials: C
authors.lastname: Oberkanins
authors.forename: Seyyed Saeid Hosseini
authors.initials: SS
authors.lastname: Amini
authors.forename: Shohreh
authors.initials: S
authors.lastname: Khatami
authors.forename: Soghra
authors.initials: S
authors.lastname: Rouhi
authors.forename: Kimia
authors.initials: K
authors.lastname: Kahrizi
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
mesh_terms: D005190:Family; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007492:Iran; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017086:beta-Thalassemia / Q000175:diagnosis*
chemical_list: D006455:Hemoglobins, Abnormal; C065670:hemoglobin Dhonburi