Affiliations: Department of Pediatrics, National University of
Malaysia, Kuala Lumpur, Malaysia | Department of Surgery, National University of
Malaysia, Kuala Lumpur, Malaysia | Department of Pathology, National University of
Malaysia, Kuala Lumpur, Malaysia
Note: [] Correspondence: Dr. Zarina A. Latiff, Senior Consultant
Pediatrician and Clinical Geneticist, Department of Pediatrics, Faculty of
Medicine, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaakob Latif,
Cheras, 56000 Kuala Lumpur, Malaysia. Tel.: +603 91457888; Fax: +603 91456637;
E-mail: [email protected], [email protected]
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.
