Beta Thalassemia
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What is beta thalassemia?Beta thalassemia is a type of inherited blood disorder that can cause anemia (a low number of red blood cells). It affects a person's ability to produce hemoglobin, the protein in red blood cells that delivers oxygen to all parts of the body. Signs and symptoms of beta thalassemia are severe in the form of the disorder known as thalassemia major and less severe in the form called thalassemia intermedia. Signs and symptoms of thalassemia major appear in the first 2 years of life. Infants become pale and listless, have a poor appetite, grow slowly, and often develop jaundice (yellowing of the skin). The spleen, liver, and heart may also be enlarged. Adolescents with the severe form may experience delayed puberty. Individuals with thalassemia intermedia may have no symptoms or mild symptoms through childhood and adolescence. How common is beta thalassemia?Worldwide, beta thalassemia is considered a fairly common blood disorder, affecting thousands of infants each year. Beta thalassemia occurs most frequently in Mediterranean countries, North Africa, the Middle East, India, and southeast Asia. In North America, the disorder is less common; an estimated 750-1000 people have beta thalassemia. What genes are related to beta thalassemia?Mutations in the HBB gene cause beta thalassemia. The HBB gene produces one of the subunits of hemoglobin, called beta hemoglobin or the beta chain. Mutations in the HBB gene can reduce or abolish the production of beta-hemoglobin, leading to abnormal hemoglobin that cannot perform its function as an oxygen carrier. How do people inherit beta thalassemia?Beta thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder. Sometimes, however, carriers of the altered HBB gene have a mild anemia referred to as thalassemia minor. In a small percentage of families, the HBB mutation is inherited in an autosomal dominant manner. In these cases, one copy of the altered gene in each cell is sufficient to cause the disorder.
Source: National Institutes of Health
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Study data from A. Saini and colleagues update understanding of thalassemia major
2007 JUL 30 -- In this recent study, researchers in New Delhi, India conducted a study "To assess the prevalence and the spectrum of psychosocial morbidity and its correlation with various social and disease-related factors in children with beta thalassemia major. Study design Sixty children with transfusion-dependent 13 thalassemia major were included in the study group who fulfilled these inclusion criteria: 1) age 5 to 15 years; 2) both parents alive and living together; 3) negative for human immunodeficiency virus; and 4) no family history of any chronic illness or psychological illness." "The control group consisted of 60 children of matched age group and social background. A semi-structured interview and 2 preformed questionnaires (Pediatric Symptom Checklist [PSC] and Childhood Psychopathology Measurement Schedule [CPMS]) were used to assess psychosocial morbidity. Results The mean score of the PSC was 11.63 +/- 3.79 (range, 7-24) in children with thalassemia, compared with 5.78 +/- 2.572 (range, 2-13) in the control group (P < .001). The mean score of the CPMS was 11.63 +/- 3.6 (range, 6-25) compared with 6.08 +/- 2.8 (range, 1-14) in the study and the control group, respectively (P < .001). Among the children with thalassemia, 54% had a mean CPMS score >= 10 (which is considered significant for psychopathological disorders), compared with 8.3% in the control group (P < .001). Children with thalassemia have significantly higher psychosocial morbidity," wrote A. Saini and colleagues. The researchers concluded: "Psychosocial aspects need to be addressed in the overall treatment of children with thalassemia to prevent the development of clinically manifest psychological disease." Saini and colleagues published their study in the Journal of Pediatrics (Study data from A. Saini and colleagues update understanding of thalassemia major. Journal of Pediatrics, 2007;150(5):516-520). For additional information, contact A. Saini, Kalawati Saran Children's Hospital, Lady Hardinge Med College, Dept. of Pediatrics, Connaught Circus, New Delhi, India. Publisher contact information for the Journal of Pediatrics is: Mosby-Elsevier, 360 Park Avenue South, New York, NY 10010-1710, USA. Keywords: India, New Delhi, Beta-Thalassemia, Clinical Trial Research, Hematology, Pediatric, Psychopathology, Thalassemia Major. This article was prepared by Biotech Business Week editors from staff and other reports. Copyright 2007, Biotech Business Week via NewsRx.com.
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