Hb Dhonburi (Neapolis) [beta126(H4)Val-->Gly] identified in a family from northern Iran.

Gly] identified in a family from northern Iran. -->
Autoři: Moghimi B; Medical School, Tehran University of Medical Sciences, Tehran, Iran., Yavarian M, Oberkanins C, Amini SS, Khatami S, Rouhi S, Kahrizi K, Najmabadi H
Zdroj: Hemoglobin [Hemoglobin] 2004; Vol. 28 (4), pp. 353-6.
Způsob vydávání: Case Reports; Journal Article
Jazyk: English
Informace o časopise: Publisher: Informa Healthcare Country of Publication: England NLM ID: 7705865 Publication Model: Print Cited Medium: Print ISSN: 0363-0269 (Print) Linking ISSN: 03630269 NLM ISO Abbreviation: Hemoglobin Subsets: MEDLINE
Imprint Name(s): Publication: London : Informa Healthcare
Original Publication: New York, Dekker.
Výrazy ze slovníku MeSH: Prenatal Diagnosis*, Hemoglobins, Abnormal/*genetics , beta-Thalassemia/*diagnosis, Family ; Female ; Humans ; Iran ; Male ; Pregnancy
Abstrakt: 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.
Substance Nomenclature: 0 (Hemoglobins, Abnormal)
138932-11-3 (hemoglobin Dhonburi)
Entry Date(s): Date Created: 20050122 Date Completed: 20050511 Latest Revision: 20190917
Update Code: 20221213
DOI: 10.1081/hem-200038876
PMID: 15658193
Autor: Moghimi B; Medical School, Tehran University of Medical Sciences, Tehran, Iran., Yavarian M, Oberkanins C, Amini SS, Khatami S, Rouhi S, Kahrizi K, Najmabadi H
Jazyk: angličtina
Zdroj: Hemoglobin [Hemoglobin] 2004; Vol. 28 (4), pp. 353-6.
DOI: 10.1081/hem-200038876
Abstrakt: 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.
Databáze: MEDLINE
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