J Pediatr Neurol 2013; 11(01): 067-070
DOI: 10.3233/JPN-120598
Georg Thieme Verlag KG Stuttgart – New York

Alpha-thalassemia mental retardation syndrome: A case report of two affected siblings

Zarina A. Latiff
Department of Pediatrics, National University of Malaysia, Kuala Lumpur, Malaysia
,
Sharifah Azween S. Omar
Department of Pediatrics, National University of Malaysia, Kuala Lumpur, Malaysia
,
Doris Lau
Department of Pediatrics, National University of Malaysia, Kuala Lumpur, Malaysia
,
Sau Wei Wong
Department of Pediatrics, National University of Malaysia, Kuala Lumpur, Malaysia
,
Lai Choo Ong
Department of Pediatrics, National University of Malaysia, Kuala Lumpur, Malaysia
,
Dayang A. Aziz
Department of Surgery, National University of Malaysia, Kuala Lumpur, Malaysia
,
Sharifah N. Akmal
Department of Pathology, National University of Malaysia, Kuala Lumpur, Malaysia
› Author Affiliations

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Further Information

Publication History

01 August 2012

30 March 2011

Publication Date:
30 July 2015 (online)

Abstract

Alpha-thalassemia mental retardation syndrome is an X-linked mental retardation (MR) syndrome characterized by a recognizable facial appearance, infantile hypotonia and cryptorchidism. Although the presence of alpha-thalassemia facilitates the diagnosis, its absence does not exclude the diagnosis of this rare syndrome. We describe two siblings who presented with facial dysmorphism, MR and a four-generation pedigree that revealed an X-linked recessive inheritance pattern. Their red blood cell indices were within the normal range; however, hemoglobin H inclusions were detected following cresyl blue staining on their peripheral blood film. Mutational analysis revealed a point mutation C7156T that is predicted to have caused a premature termination within the alpha-thalassemia MR syndrome gene in both siblings. Confirmation of this mutation has facilitated the process of genetic counseling, carrier testing and prenatal diagnosis amongst female relatives in this family.