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Pattern for alpha-thalassaemia in Yemeni sickle-cell-disease patients
1Medical Biochemistry Department, WHO Collaborating Centre for Haemoglobinopathies, Thalassaemias and Enzymopathies, College of Medicine, King Khalid University Hospital, Riyadh, Saudi Arabia.
Insights
Alpha-thalassaemia, a genetic defect in the alpha-globin gene, is common in Yemeni sickle-cell disease (SCD) patients. This finding highlights the need for further research in Yemen for better patient care.
Area of Science:
- Medical Genetics
- Hematology
Background:
- Sickle-cell disease (SCD) is a significant health concern.
- Alpha-thalassaemia is a common inherited blood disorder that can influence SCD severity.
- Understanding the prevalence of alpha-thalassaemia in specific populations is crucial for genetic counseling and patient management.
Purpose of the Study:
- To investigate the incidence of alpha-globin gene molecular defects in Yemeni individuals with SCD and healthy controls living in Riyadh.
- To compare the frequencies of alpha-gene deletions and arrangements between SCD patients and normal Hb AA individuals.
Main Methods:
- Genomic DNA was extracted from blood samples of 26 Yemeni SCD patients and 19 healthy Yemeni controls (Hb AA group).
- Molecular techniques were employed to detect alpha-gene deletions (single, double) and rearrangements (triple alpha-gene arrangement).
Main Results:
- The frequency of single alpha-gene deletion (-alpha/alpha alpha) was higher in SCD patients (0.346) compared to controls (0.263).
- The frequency of two gene deletion (-alpha/-alpha) was significantly higher in SCD patients (0.231) versus controls (0.0).
- A rare triple alpha-gene arrangement (alpha alpha alpha/alpha alpha) was identified in one control individual (frequency 0.053).
Conclusions:
- Alpha-thalassaemia, specifically alpha-gene deletions, appears to be prevalent among Yemeni individuals with sickle-cell disease.
- These findings suggest a potential genetic interaction between alpha-thalassaemia and SCD in this population.
- Further epidemiological studies on alpha-thalassaemia in the Republic of Yemen are recommended for improved clinical management of SCD patients.
Abstract:
A group of Yemeni patients with sickle-cell disease (SCD) and normal Hb AA individuals living in Riyadh were studied to determine the incidence of the alpha-gene molecular defect. Blood samples were obtained from 26 SCD patients and 19 controls (the Hb AA group). In the SCD patients the frequency of single alpha-gene deletion (-alpha/alpha alpha) was 0.346, compared to 0.263 in the Hb AA group. The frequency of two gene deletion (-alpha/-alpha) was 0.231 (0.0 for the Hb AA group). In one Hb AA case, a triple alpha-gene arrangement (alpha alpha alpha/alpha alpha) was found (frequency 0.053). The results suggest that alpha-thalassaemia occurs frequently in Yemeni SCD patients. Further studies to determine the overall frequency of alpha-thalassaemia in the Republic of Yemen would be of value for patient management.