Pathophysiology, clinical manifestations, and carrier detection in Thalassemia

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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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
Uncontrolled Keywords: Carrier detection, Genetic disorder, Treatment, Thalassemia
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Divisions: FACULTY > Faculty of Medicine and Health Sciences
Depositing User: Users 83 not found.
Date Deposited: 06 Feb 2017 01:24
Last Modified: 25 Oct 2017 07:05

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