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Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 2
103
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Short Communications

Molecular Understanding of Severe Cases of β-Thalassemia in the Nablus Region, West Bank, Palestine

, , , &
Pages 128-130 | Received 17 Dec 2019, Accepted 12 Apr 2020, Published online: 18 May 2020
 

Abstract

Hemoglobinopathies are common inherited monogenic diseases that are likely to remain a serious regional health problem where thalassemias and sickle cell disease are prevalent. In regions where recessive alleles for hemoglobinopathy disorders are present with high consanguinity rates, such as in Palestine, coinheritance of two different genetic defects becomes anticipated and prevalent. In this report, we characterize the molecular variants of the HBB gene for 16 patients with transfusion-dependent anemia registered at the Thalassemia Patient Friends Society in Nablus governorate, West Bank, Palestine. Analysis revealed that 63.0% (10/16) of the patients were homozygous for β-thalassemia (β-thal), IVS-I-6 (T>C) (HBB: c.92+6T>C) or IVS-I-110 (G>A) (HBB: c.93-21G>A); 19.0% (3/16) homozygous for sickle cell disease or Hb S (HBB: c.20A>T, p.Glu6Val); 13.0% (2/16) were double heterozygotes for Hb S/β-thal, (HBB: c.20A>T/HBB: c.92G>C) and HBB: c.20A>T/HBB: c.321_322insG; and one case was a compound heterozygote for β-thal, codon 39 (C>T) (HBB: c.118C>T) and IVS-I-110. The most common mutation reported in the 16 patients was IVS-I-6 (0.38), followed by IVS-I-110 (0.28) Hb S (0.25) and 0.03 each for codon 39, codons 106/107 (HBB: c.321_322insG) and Hb Monroe (HBB: c.92G>C). In conclusion, in Palestine, a variety of intricate inheritance patterns are encountered in clinical practice.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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