Thalassemia

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thalassemia

[‚thal·ə′sē·mē·ə]
(medicine)
A hereditary form of hemolytic anemia resulting from a defective synthesis of hemoglobin: thalassemia major is the homozygous state accompanied by clinical illness, and thalassemia minor is the heterozygous state and may not have evident clinical manifestations. Also known as Mediterranean anemia.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
The following article is from The Great Soviet Encyclopedia (1979). It might be outdated or ideologically biased.

Thalassemia

 

(also thalassanemia), a familial hemolytic anemia, first detected in 1925 among inhabitants of the Mediterranean region. Thalassemia is caused by disturbances in hemoglobin synthesis.

The Great Soviet Encyclopedia, 3rd Edition (1970-1979). © 2010 The Gale Group, Inc. All rights reserved.
References in periodicals archive ?
Alpha thalassemia is caused by mutations in the alpha globin gene locus on chromosome 16.
Conclusion: Alpha thalassemia deletions (-a3.7, -a4.2) are the common co-inherited deletions found in beta thalassemia major patients.
Molecular studies in different regions of Brazil show an approximately 25% prevalence of alpha thalassemia in Brazilian populations (LERMEN, 2007).
DNA samples were obtained from all members of the family and polymerase chain reaction (PCR) was performed according to the protocol described by Baysal and Huisman3 for the detection of -a3.7, -a4.2, and -MED mutations as common alpha thalassemia gene mutations in Iran.5
SYMPTOMS: The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).
Thalassemia can be divided into different types mainly "Alpha Thalassemia" and "Beta Thalassemia" depending on the defective location, whether it is in the gene responsible for producing the protein series of Alpha or Beta in the hemoglobin.
The patented test detects Alpha Thalassemia mutations and their use as predictors of blood-related disorders.
Molecular mechanisms of alpha thalassemia. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds.
# In the worst cases of Thalassemia, where a patient is diagnosed with Alpha Thalassemia Major (all four of the alpha globin genes are abnormal or missing), some patients may not survive past childhood.
The example of hemoglobin Constant Spring comes to mind, often facetiously referred to in our laboratory as "Small Bump Disease." Positive identification of the presence of Constant Spring is critical in that it can be a severe form of alpha thalassemia and a predictor of potential hemoglobin H disease in the future.
Most common disorders Commenting on the most common genetic blood disorders, Al Kindi said, "According to the studies carried out by the Ministry of Health in 1995 and also studies done by us in 2010, 5.7 per cent of the population is affected by sickle cell, and around 2.2 or 2.6 per cent is affected by Beta thalassemia." Alpha thalassemia is the most common disease which affects up to 48 per cent of the population, said Al Kindi, who is also a founding member of Oman Hereditary Blood Disorder Association (OHBDA).