జర్నల్ ఆఫ్ బ్లడ్ డిజార్డర్స్ & ట్రాన్స్‌ఫ్యూజన్

నైరూప్య

Compound Heterozygous -30 (T>C) and Cd 41/42 (-TTCT) Leading to β-Thalassemia Major in a Malay Autistic Patient

Syahzuwan Hassan, Rahimah Ahmad, Faidatul Syazlin Abdul Hamid, Nur Aisyah Aziz, Syahira Lazira Omar, Siti Hida Hajira Mohamad Arif, Intan Kartina Abdul Karim, Thiyagar Nadarajaw, and Zubaidah Zakaria

Cd 41/42 (-TTCT), IVS 1-5 (G-C), IVS 1-1 (G-T), and HbE are the most common β-globin defects among Malaysian Malays, and compound heterozygous states of the four mutations are commonly encountered. Here, we described the hematologic and DNA characterizations of our first-time encountered compound heterozygous state of β° Cd 41/42 (-TTCT) and a mild β+ TATA box mutation, -30 (T>C), in a Malay patient leading to β-thalassemia major. At the age of 2, she presented with symptomatic anemia, hepatosplenomegaly, and was put on a β- thalassemia major treatment regime. Now, at the age of 6, she was found to be autistic, a slow learner with social interaction problems, and she is under a psychiatric follow up for autism. Inevitably, the detection of β-globin defects among Malaysians must include comprehensive molecular analyses for an accurate assessment of emerging and rare mutations, as well as modifier genes affecting disease severity.