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β‐Thalassemia pathogenic variants in a cohort of children from the East African coast
β‐Thalassemia pathogenic variants in a cohort of children from the East African coast
- Source :
- Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020), Molecular Genetics & Genomic Medicine
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
Abstract
- Background β‐Thalassemia is rare in sub‐Saharan Africa. Previous studies have suggested that it is limited to specific parts of West Africa. Based on hemoglobin A2 (HbA2) concentrations measured by HPLC, we recently speculated that β‐thalassemia might also be present on the East African coast of Kenya. Here, we follow this up using molecular methods. Methods We used raised hemoglobin A2 (HbA2) values (> 4.0% of total Hb) to target all HbAA members of a cohort study in Kilifi, Kenya, for HBB sequencing for β‐thalassemia (n = 99) together with a sample of HbAA subjects with lower HbA2 levels. Because HbA2 values are artifactually raised in subjects carrying sickle hemoglobin (HbS) we sequenced all participants with an HPLC pattern showing HbS without HbA (n = 116) and a sample with a pattern showing both HbA and HbS. Results Overall, we identified 83 carriers of four separate β‐thalassemia pathogenic variants: three β0‐thalassemia [CD22 (GAA→TAA), initiation codon (ATG→ACG), and IVS1‐3ʹ end del 25bp] and one β+‐thalassemia pathogenic variants (IVS‐I‐110 (G→A)). We estimated the minimum allele frequency of all variants combined within the study population at 0.3%. Conclusions β‐Thalassemia is present in Kilifi, Kenya, an observation that has implications for the diagnosis and clinical care of children from the East Africa region.<br />Historically, it has generally believed that β‐thalassemia does not occur widely in Africa. The only populations where this condition is known to be present are in Liberia and Nigeria in West Africa. In the current paper we show that β‐thalassemia is present on the East African Coast of Kenya where we have described four separate genetic mutations that together affect approximately 0.3% of the population.
- Subjects :
- Male
0301 basic medicine
Thalassemia
030105 genetics & heredity
Gene Frequency
hemic and lymphatic diseases
HETEROGENEITY
MOLECULAR CHARACTERIZATION
Child
HEMOGLOBIN
Genetics (clinical)
INITIATION CODON MUTATION
Genetics & Heredity
POSSIBLE ORIGINS
hematology
Beta thalassemia
Hemoglobin A
3. Good health
Hemoglobinopathy
Cohort
Population study
Original Article
Female
Life Sciences & Biomedicine
Heterozygote
medicine.medical_specialty
congenital, hereditary, and neonatal diseases and abnormalities
lcsh:QH426-470
Biology
PROFILE
DIAGNOSIS
Polymorphism, Single Nucleotide
03 medical and health sciences
Hemoglobin A2
Internal medicine
parasitic diseases
Genetics
medicine
Humans
hemoglobinopathy
Molecular Biology
Allele frequency
0604 Genetics
Science & Technology
0304 Medicinal and Biomolecular Chemistry
beta-Thalassemia
1103 Clinical Sciences
Original Articles
medicine.disease
Kenya
lcsh:Genetics
030104 developmental biology
Subjects
Details
- Language :
- English
- ISSN :
- 23249269
- Volume :
- 8
- Issue :
- 7
- Database :
- OpenAIRE
- Journal :
- Molecular Genetics & Genomic Medicine
- Accession number :
- edsair.doi.dedup.....f96ef3bd1aedd76cd9fbde77e7223c7a