Journal of Blood Disorders & Transfusion

Intan Kartina Abdul Karim

Publications

• Case Report
  Compound Heterozygous -30 (T>C) and Cd 41/42 (-TTCT) Leading to β-Thalassemia Major in a Malay Autistic Patient
  Author(s): 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 ZakariaSyahzuwan 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.. View More»
  DOI: 10.4172/2155-9864.1000246

  Abstract PDF