Genotype-phenotype characteristics of β thalassemia children in the Gaza Strip, Palestine

Sirdah, Mahmoud M.

doi:10.4172/2327-5790.1000109

Cited by 5 publications

(2 citation statements)

References 33 publications

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“…Sickle cell anemia mutations were detected using DNA sequencing technology (ABI310) on samples. The genotyping was determined by PCR using suitable primers as previously report 15 . Alpha-thalassemia (α-thal) mutations were screened using reverse hybridization assay (α-Globin StripAssay 4-160; ViennaLab Diagnostics) which covers 21 of α-thal mutations according to the manufacturer’s instructions.…”

Section: Case Presentationmentioning

confidence: 99%

Compound heterozygosity for Hb C/Hb S (HBB: c.19G>A/HBB: c.20A>T) diseases observed in a Syrian family: a case report

Moassas

Daboul

́ad

et al. 2023

Annals of Medicine &Amp; Surgery

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Introduction: Hemoglobin S and Hemoglobin C disease is a type of sickle cell disease caused by two mutations at codon 6 of β-globin gene. These mutations cause changes in the shape of the red blood cells. Little is known about its presence in our region. Case Presentation: The authors describe a case of a Syrian family consisting of father, mother, two daughters, and son. The mother presented with anemia, episodes of fatigue, and extreme pain (vaso-occlusive crisis). Beta and alpha-globin gene mutations have been analyzed using molecular detection methods. The results revealed that, the mother, second daughter, and son were all double heterozygous for hemoglobin C and S associated with the –α3.7 deletion mutation. The husband and the first daughter were found to have the hemoglobin C trait. Discussion: Hemoglobin (Hb) SC has been known to have a higher frequency in black populations and is restricted to persons of West African descent. In our case, all family members had dark brown skin color, and they were all diagnosed with Hb C or Hb SC. The mother, second daughter, and son had the clinical manifestations associated with Hb SC disease, and their values of mean cell volume and mean cell hemoglobin were low due to the presence of the –α3.7 deletion mutation. The husband and the first daughter do not have any serious health problems. Conclusions: To the best of the knowledge, this is the first case of compound heterozygous for hemoglobin C and S to be reported from a Syrian family.

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Section: Case Presentationmentioning

confidence: 99%

Compound heterozygosity for Hb C/Hb S (HBB: c.19G>A/HBB: c.20A>T) diseases observed in a Syrian family: a case report

Moassas

Daboul

́ad

et al. 2023

Annals of Medicine &Amp; Surgery

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“…Polymerase chain reaction (PCR) method was used to determine the genotype of HBB gene. The appropriate primers used for exon 1, exon 2 and exon 3 of β-globin gene included the promoter, first intron, 5` and 3` untranslated region (UTR) sequences as previously reported (Yassin et al, 2013). The entire human HBB gene was sequenced using an ABI PRISM 310-DNA Analyzer (Applied Biosystem, Foster City, CA, USA) as reported previously (Murad et al, 2014(Murad et al, , 2018).…”

Section: Dna Sample Preparation and Sequencingmentioning

confidence: 99%

A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family

Murad

Moassas

Fakseh

2021

Molec Gen & Gen Med

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Background CAP+1 [A>C] (HBB:c.‐50A>C) is a rare silent β‐thalassemia (β‐thal) mutation. Carrier individuals of this mutation show borderline hemoglobin (Hb), mean corpuscular volume (MCV) and Hb A2 levels. This mutation was previously reported in combination with different β‐thalassemia mutations, leading to variable phenotypes. Case presentation Here, we describe for the first time the combination of silent CAP+1 [A>C] (HBB:c.‐50A>C) mutation with β0 codon 5 [‐CT] (HBB:c.17_18delCT) mutation in a Syrian proband, leading to beta thalassemia intermedia (TI). Conclusions The compound heterozygotes of the silent CAP+1 (A>C) together with another severe beta gene mutation, are phenotypically severe enough to present at an early age and require appropriate therapeutic modalities.

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A compound heterozygous −29 A>G and IVS-I-1 G>A mutation of HBB gene leading to β-thalassemia intermedia in a Syrian patient: A case report

et al. 2019

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Genotype-phenotype characteristics of β thalassemia children in the Gaza Strip, Palestine

Abstract: Volume 2 • Issue 2 • 1000109 * Significantly different value as compared to the other genotypes ALT: Alanine Aminotransferase; AST: Aspartate aminotransferase Table 8: Biochemical characteristics according to patients Genotype.

Cited by 5 publications

References 33 publications

Compound heterozygosity for Hb C/Hb S (HBB: c.19G>A/HBB: c.20A>T) diseases observed in a Syrian family: a case report

Compound heterozygosity for Hb C/Hb S (HBB: c.19G>A/HBB: c.20A>T) diseases observed in a Syrian family: a case report

A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family

A compound heterozygous −29 A>G and IVS-I-1 G>A mutation of HBB gene leading to β-thalassemia intermedia in a Syrian patient: A case report

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