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36976

Genetic screening for alpha thalassemia mutations among Egyptian neonates

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Pediatrics

Advisors

El-Badawi, Ayman , Rezq, Samya , Yusri, Elham

Authors

Abdel-Aziz, Nivin Muhammad Salama

Accessioned

2017-03-30 06:21:09

Available

2017-03-30 06:21:09

type

M.D. Thesis

Abstract

The alpha-thalassemias are common genetic disorders that affect both fetal and adult life. They arise from suppressed synthesis of the α-globin chain of the fetal (alpha2, gamma2) and adult (alpha2, beta2) hemoglobin. The pathogenesis of alpha-thalassemia syndromes involves a four gene system located in chromosome 16. The severity of the clinical syndrome depends on the number of the defective genes: One defective gene: no clinical phenotype (silent α-thalassemia carrier), two defective genes: red cell microcytosis with little or no anemia (α-thalassemia trait), three defective genes: chronic hemolytic anemia with spleenomegaly (hemoglobin H disease), four defective genes: severe anemia with hydrops fetalis, and fetal or neonatal loss (hemoglobin Bart’s disease). Patient and Methods: 1000 randomly chosen neonate were included in the study. These neonates were subjected to: History taken, clinical examination, complete blood count, Hb electrophoreses PCR study for their genomic DNA. Results: Among the 1000 samples that were taken, 31 cases were found to be silent α-thalassemia carriers (3.1%), 42 cases were founded to have α-thalassemia trait (4.2%) with 11 cases have the defective genes on the same chromosome (--/alpha alpha heterozygous) and 31 cases have the defective genes on two deferent chromosomes (-alpha/-alpha homozygous), 18 cases where founded to have hemoglobin H disease (1.8%), no single case where proved to have hemoglobin Bart’s disease . 58 samples of the 1000 samples failed to be amplified so no further DNA analysis was able to be carried out.

Issued

1 Jan 2004

Details

Type

Thesis

Created At

28 Jan 2023