当前位置： SCI文献检索 > ANNALS OF HEMATOLOGY期刊下所有文献 > The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D.

The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D.

Abstract：

:Among 13,525 haemoglobin analyses performed in our laboratory we detected 21 cases of haemoglobin D (Hb D) disease. Investigation of a family affected with this abnormal haemoglobin revealed two cases of Hb D/beta-(0) thalassaemia for the first time among Saudi Arabs. The two patients were diagnosed as having chronic haemolytic anaemia of moderate severity on the basis of the haemoglobin level, haematocrit, mean corpuscular haemoglobin, mean corpuscular volume, reticulocyte count, red blood cell count microscopy, elevated serum conjugated and non-conjugated bilirubin, increased serum lactic dehydrogenase, and the occasional need for blood transfusions. Genetic analysis enabled the detection of compound heterozygosity for the missense E121Q (codon 121 GAA-->CAA) and stop W15X (codon 15 TGG-->TGA) mutations as causative of the clinical phenotype of Hb D-LosAngeles (Punjab)/beta-(0) thalassaemia. The disease manifested as domination of Hb D and moderate haemolytic anaemia. The co-inheritance of beta-(0) thalassaemia seems to be responsible for conferring the deleterious effect on the presentation of Hb D disease in these patients. The present result emphasizes the significance of molecular testing in resolving certain diagnostic ambiguities in haematology as in cases of heterozygous Hb D in association with beta-(0) thalassaemia which, by haemoglobin electrophoresis, may be misdiagnosed as Hb D homozygosity.

journal_name

Ann Hematol

journal_title

Annals of hematology

authors

Ahmed M,Stuhrmann M,Bashawri L,Kühnau W,El-Harith EH

doi

10.1007/s002770100376

subject

Has Abstract

pub_date

2001-11-01 00:00:00

pages

629-33

issue

11

eissn

0939-5555

issn

1432-0584

journal_volume

80

pub_type

杂志文章

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