Phenotypic heterogeneity of delta-beta thalassemia

Kleihauer's test revealed ghost cells and fewer F-cells in both the father and brother. [...]their probable diagnosis was heterozygous δβ thalassemia. [...]this mutation was absent in index case. δβ thalassemia is a genetically heterogeneous group of disorders which are classified into (δβ)° th...

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Bibliographic Details
Published in:Indian journal of pathology & microbiology 2019-01, Vol.62 (1), p.185-186
Main Authors: Sharma, Sunita, Sehgal, Shivali, Das, Reena, Gulati, Sameer
Format: Article
Language:English
Subjects:
Anemia
Clonal deletion
Genes
Genotypes
Heterogeneity
Mutation
Thalassemia
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Summary:Kleihauer's test revealed ghost cells and fewer F-cells in both the father and brother. [...]their probable diagnosis was heterozygous δβ thalassemia. [...]this mutation was absent in index case. δβ thalassemia is a genetically heterogeneous group of disorders which are classified into (δβ)° thalassemia and (δβ)+ thalassemia. (δβ)° thalassemia is further divided into (δβ)° thalassemia in which both δ and β globin genes are deleted and (Aγδβ) 0 thalassemia in which the Aγ, δ, and β genes are deleted. Because of the presence of many deletion forms of δβ thalassemia, they are further classified according to the country in which they were first identified. An extended molecular analysis is needed in such patients to define the genotype for different genetic modifiers and to understand their phenotypic modulation abilities. [...]this case is being reported because it is an example of unexplained phenotypic heterogeneity of δβ thalassemia.
ISSN:0377-4929
0974-5130
DOI:10.4103/IJPM.IJPM_314_17