Murtaza Mustafa and A. Thiru and Em. Illzam and Mohd Firdaus Mohd Hayati and Fairrul Masnah @ Kadir and Sharifa Am and Nang, MK (2016) Pathophysiology, clinical manifestations, and carrier detection in Thalassemia. IOSR Journal of Dental and Medical Sciences (IOSR-JDMS), 15 (11). pp. 122-126. ISSN 2279-0853
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Abstract
Thalassemia’s are genetic disorders inherited from a person’s parents. Thalassemia’s are prevalent worldwide with 25,000 deaths in 2013.Highest rates are in the Mediterranean, Italy, Greece, Turkey, West Asia, North Africa, South Asian, and Southeast Asia. Highest carriers(30% of the population) in the Maldives.Thalassemia’s are classified into alpha-thalassemia, Beta-thalassemia, thalassemia intermedia, and beta thalassemia minor. The severity of alpha and beta thalassemia depends on how many of four genes for alpha or two genes for beta globin are missing. Hemoglobinopaties imply abnormalities in the globin proteins themselves. Health complications are mostly found in thalassemia major and intermediate patients. Signs and symptoms include severe anemia, poor growth and skeletal abnormalities during infancy. Untreated thalassemia major eventually leads to death, usually by heart failure.Diagnosis by hematologic tests, hemoglobin electrophoresis, and DNA analysis. Individuals with severe thalassemia require blood transfusion, drug therapy i.e.,deferoxamine,deferasirox, deferiprone,and bone marrow transplant. Most drugs have side effects. Prevention includespremarital screening,carrier detection, and genetic counselling.
| Item Type: | Article |
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| Keyword: | Carrier detection, Genetic disorder, Treatment, Thalassemia |
| Subjects: | ?? RC0321 ?? |
| Department: | FACULTY > Faculty of Medicine and Health Sciences |
| Depositing User: | Munira M |
| Date Deposited: | 06 Feb 2017 09:24 |
| Last Modified: | 25 Oct 2017 15:05 |
| URI: | https://eprints.ums.edu.my/id/eprint/15512 |
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