J Pediatr Genet 2014; 03(03): 175-181
DOI: 10.3233/PGE-14097
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Clinical presentation of two β-thalassemic Indian patients with 1p36 deletion syndrome: Case report

Puspal De
a  Department of Human Genetics, Institute of Genetic Medicine and Genomic Science, Kolkata, West Bengal, India
,
Tridip Chatterjee
a  Department of Human Genetics, Institute of Genetic Medicine and Genomic Science, Kolkata, West Bengal, India
,
Sudipa Chakravarty
b  Department of Genetics, Institute of Genetic Engineering, Kolkata, West Bengal, India
,
Amit Chakravarty
a  Department of Human Genetics, Institute of Genetic Medicine and Genomic Science, Kolkata, West Bengal, India
› Author Affiliations

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Further Information

Publication History

28 June 2014

23 October 2014

Publication Date:
27 July 2015 (online)

Abstract

Here, we present two thalassemic patients (one male and one female), having unusual clinical phenotypes. Both had mental retardation in which one was associated with microcephaly and other had congenital cataract. They were referred to our institute for clinical evaluation and cytogenetic testing. Both patients were tested for presence of abnormal hemoglobin by high performance liquid chromatography and found to be thalassemic. Their β-globin mutation was also determined by amplification refractory mutation system-polymerase chain reaction. The male patient was found to have intervening sequence 1-5 (G-C)/+, indicating β-thalassemia trait and the female was found to have Cod 26 (G-A)/IVS 1-5 (G-C), indicating hemoglobin E-β thalassemia. Their cytogenetic analysis of blood lymphocytes were studied with high-resolution GTG-banding analysis by using chromosome profiling (Cyto-vision software 3.6) on their chromosomes. Results revealed 46,XY,del(1)(p36.21) in the male and 46,XX,del(1)(p36.3) in the female. Their genotype variation showed (based on genome browser) significant gene loss which probably leads to marked phenotype variation. We believe, thalassemia with mental retardation associated with microcephaly and congenital cataract, both having loss in chromosome 1, p36 position, is reported probably first time from India. This report will definitely enlighten all concerns and add to the information in growing literature.