Beta Thalassemia and Klinefelter syndrome: a rare occurrence

Background β-Thalassemia is an inherited haematological blood disorder in the HBB gene, and variations in this HBB gene lead to the absence/deficiency of the Beta chain synthesis of haemoglobin leading to severe anaemia. Klinefelter syndrome is a chromosomal abnormality that affects physical and cog...

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Veröffentlicht in:	Egyptian Journal of Medical Human Genetics 2022-05, Vol.23 (1), p.87-4, Article 87
Hauptverfasser:	Billapati, Sushmitha, Sowmya, G. C., Tapadia, R. S., Dutta, Usha R.
Format:	Artikel
Sprache:	eng
Schlagworte:	Analysis AZF genes Blood diseases Blood transfusion Case Report Chromosomal analysis Chromosome aberrations Chromosomes Cognitive ability Cytogenetics DNA sequencing Genetic aspects Genetic disorders HBB gene Hemoglobin Karyotypes Klinefelter syndrome Klinefelter's syndrome Medicine Medicine & Public Health Nucleotide sequencing Phenotypes Puberty Testosterone Thalassemia β-Thalassemia
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