Thalassemia intermedia in HbH-CS disease with compound heterozygosity for beta-thalassemia: challenges in hemoglobin analysis and clinical diagnosis

Tan, J.; Kok, J.L.; Tan, K.L.; Wee, Y.C.; George, E. (2009) Thalassemia intermedia in HbH-CS disease with compound heterozygosity for beta-thalassemia: challenges in hemoglobin analysis and clinical diagnosis. Genes & Genetic Systems, 84 (1). pp. 67-71. ISSN 1341-7568

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    Abstract

    Co-inheritance of alpha-thalassemia with homozygosity or compound heterozygosity for beta-thalassemia may ameliorate beta-thalassemia major. A wide range of clinical phenotypes is produced depending on the number of beta-thalassemia alleles (-alpha(alpha alpha--/alpha alpha, —/-alpha). The co-inheritance of beta-thalassemia with a-thalassemia with a single gene deletion (-alpha/alpha) is usually associated with thalassemia major. In contrast, the co-inheritance of beta-thalassemia with two alpha-genes deleted in cis or trans (--/alpha alpha or -alpha/-alpha) generally produces beta-thalassemia intermedia. In Southeast Asia, the most common defect responsible for alpha-thalassemia is the Southeast Asian (SEA) deletion of 20.5 kilobases. The presence of the SEA deletion with Hb Constant Spring (HbCS) produces HbH-CS disease. Co-inheritance of HbH-CS with compound heterozygosity for beta-thalassemia is very rare. This study presents a Malay patient with HbH-CS disorder and beta degrees/beta(+)-thalassemia. The SEA deletion was confirmed in the patient using a duplex-PCR. A Combine-Amplification Refractory Mutation System (C-ARMS) technique to simultaneously detect HbCS and Hb Quong Sze confirmed HbCS in the patient. Compound heterozygosity for CD41/42 and Poly A was confirmed using the ARMS. This is a unique case as the SEA a-gene deletion in cis (--(SEA)/alpha) is generally not present in the Malays, who more commonly posses the two a-gene deletion in trans In addition, the beta-globin gene mutation at CD41/42 is a common mutation in the Chinese and not in the Malays. The presence of both the SEA deletion and CD41/42 in the mother of the patient suggests the possible introduction of these two defects into the family by marriage with a Chinese.

    Item Type: Article
    Creators:
    1. Tan, J.(Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA)
    2. Kok, J.L.
    3. Tan, K.L.
    4. Wee, Y.C.
    5. George, E.
    Journal or Publication Title: Genes & Genetic Systems
    Additional Information: Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA
    Uncontrolled Keywords: Thalassemia intermedia, Hb Constant Spring, CD41/42, Poly A, Amplification Refractory Mutation System, Duplex-PCR
    Subjects: R Medicine
    Divisions: Faculty of Medicine
    Depositing User: Ms Haslinda Lahuddin
    Date Deposited: 01 Oct 2012 11:43
    Last Modified: 01 Oct 2012 11:43
    URI: http://eprints.um.edu.my/id/eprint/3713

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