Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah

被引:0
作者
Lai Kuan Teh
Elizabeth George
Mei I Lai
Jin Ai Mary Anne Tan
Lily Wong
Patimah Ismail
机构
[1] Faculty of Medicine and Health Sciences,Department of Pathology
[2] Universiti Putra Malaysia,Department of Biomedical Science
[3] Faculty of Medicine,Department of Medicine
[4] University of Malaya,Department of Biomedical Sciences
[5] Hospital Queen Elizabeth,undefined
[6] Faculty of Medicine and Health Sciences,undefined
[7] Universiti Putra Malaysia,undefined
来源
Journal of Human Genetics | 2014年 / 59卷
关键词
β globin gene mutations; beta thalassemia; filipino β; -deletion; indigenous population; Sabah;
D O I
暂无
中图分类号
学科分类号
摘要
Beta-thalassemia is one of the most prevalent inherited diseases and a public health problem in Malaysia. Malaysia is geographically divided into West and East Malaysia. In Sabah, a state in East Malaysia, there are over 1000 estimated cases of β-thalassemia major patients. Accurate population frequency data of the molecular basis of β-thalassemia major are needed for planning its control in the high-risk population of Sabah. Characterization of β-globin gene defects was done in 252 transfusion dependent β-thalassemia patients incorporating few PCR techniques. The study demonstrates that β-thalassemia mutations inherited are ethnically dependent. It is important to note that 86.9% of transfusion-dependent β-thalassemia major patients in Sabah were of the indigenous population and homozygous for a single mutation. The Filipino β0-deletion was a unique mutation found in the indigenous population of Sabah. Mutations common in West Malaysia were found in 11 (4.3%) patients. Four rare mutations (Hb Monroe, CD 8/9, CD 123/124/125 and IVS I-2) were also found. This study is informative on the population genetics of β-thalassemia major in Sabah.
引用
收藏
页码:119 / 123
页数:4
相关论文
共 50 条
  • [41] Effectiveness and tolerability of twice daily dosing of deferasirox in unresponsive and intolerant transfusion-dependent beta-thalassemia patients: A narrative review
    Babu, Tirin
    Panachiyil, George Mathew
    Sebastian, Juny
    Ravi, Mandyam Dhati
    INDIAN JOURNAL OF PHARMACOLOGY, 2020, 52 (06) : 514 - 519
  • [42] TRANSFUSION-DEPENDENT HOMOZYGOUS BETA-THALASSEMIA MAJOR - SUCCESSFUL TWIN PREGNANCY FOLLOWING IN-VITRO FERTILIZATION AND TUBAL EMBRYO-TRANSFER
    SERACCHIOLI, R
    PORCU, E
    COLOMBI, C
    CIOTTI, P
    FABBRI, R
    DESANCTIS, V
    FLAMIGNI, C
    HUMAN REPRODUCTION, 1994, 9 (10) : 1964 - 1965
  • [43] Successful therapy in homozygous beta-thalassemia by a meticulous transfusion regimen and Deferoxamine
    Pekrun, A
    Fleckstein, W
    Schroter, W
    MONATSSCHRIFT KINDERHEILKUNDE, 1996, 144 (07) : 699 - 701
  • [44] Posterior reversible encephalopathy syndrome in a known case of beta-thalassemia major after blood transfusion: a case presentation
    Hanna, Diana
    Nada, Mohamad Gamal
    Gohary, Mahmoud M.
    EGYPTIAN PEDIATRIC ASSOCIATION GAZETTE, 2024, 72 (01)
  • [45] Subclinical autonomic dysfunction in patients with beta-thalassemia
    Elefterios Stamboulis
    Nikoleta Vlachou
    Konstantinos Voumvourakis
    Athina Andrikopoulou
    Chrisa Arvaniti
    Athanasios Tsivgoulis
    Dimitrios Athanasiadis
    Sotirios Tsiodras
    Nikolaos Tentolouris
    Heleni Triantafyllidi
    Marouso Drossou-Servou
    Aphrodite Loutradi-Anagnostou
    Georgios Tsivgoulis
    Clinical Autonomic Research, 2012, 22 : 147 - 150
  • [46] Four‑Dimensional Echocardiographic Evaluation of Cardiac Iron Overload in Patients with Beta-Thalassemia Major
    Ahmet Burak Fedai
    Ugur Nadir Karakulak
    Elifcan Aladag
    Nilgun Sayinalp
    Cardiovascular Toxicology, 2024, 24 : 41 - 48
  • [47] Finger and palmar dermatoglyphics in beta-thalassemia patients
    Bhalla, A. K.
    Marwaha, R. K.
    Kaur, Harvinder
    Sharma, Anju
    MANKIND QUARTERLY, 2007, 47 (03) : 57 - 74
  • [48] Prevalence of HBV and HCV infection in beta-thalassemia major patients of Tabriz city, Iran
    Mirzaei, G.
    Shamsasenjan, K.
    Jafari, B.
    Bagherizadeh, Y.
    Sadafzadeh, A.
    Bannazadeh-Baghi, H.
    Sadeghi-Deylamdeh, Z.
    Jafari-Sales, A.
    NEW MICROBES AND NEW INFECTIONS, 2021, 43
  • [49] SHORT COMMUNICATION - URINARY ZINC EXCRETION IN BETA-THALASSEMIA MAJOR PATIENTS WITH AND WITHOUT HEPATITIS
    UYSAL, Z
    AKAR, N
    DINCER, N
    CIN, S
    ARCASOY, A
    TRACE ELEMENTS AND ELECTROLYTES, 1994, 11 (03): : 153 - 154
  • [50] Coagulation Defects in Beta-Thalassemia Major Patients at Haji Adam Malik Hospital Medan
    Situmorang, Eduward
    Aman, Adi Koesoema
    Lubis, Bidasari
    BALI MEDICAL JOURNAL, 2019, 8 (02) : 501 - 504