Beta thalassemias are a group of inherited blood disorders. They are forms of thalassemia .. to remove the excess iron. Transmission is autosomal recessive; however, dominant mutations and compound heterozygotes have been reported. Thalassemias are inherited blood disorders characterized by abnormal hemoglobin production. The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing. Beta thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains. In the homozygous .

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They are thalasssmie of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals.

All beta thalassemias may exhibit abnormal red blood cells, a family history is followed by DNA analysis. If untreated, affected children usually manifest failure to thrive and expansion of the bone marrow to compensate for ineffective erythropoiesis.


Carrier testing for at-risk relatives can be done by hematologic or molecular genetic testing. Disorders of globin and globulin proteins Hereditary hemolytic anemias. Echocardiographic finding in beta-thalassemia intermedia and major: Textbook of Biochemistry for Dental Students. The authors concluded that delayed bone maturation and focal osteomalacia are the pathogenesis of bone disease in suboptimally blood-transfused thalassemics with iron overload.


Transplantation can eliminate a patient’s dependence on transfusions. Absent a matching donor, a savior sibling can be conceived by preimplantation genetic diagnosis PGD to be free of the disease as well as to match the recipient’s human leukocyte antigen HLA type.

Hematol Oncol Clin North Am. Typical craniofacial changes frontal bossing, malar prominence, depressed nasal bridge, tendency toward upslanted palpebral fissures, and hypertrophy of the maxillae, which tends to expose the upper teeth. Assessment of myocardial siderosis by MRI techniques and monitoring of cardiac function combined with intensification of iron chelation can result in excellent long-term prognoses [ WoodKirk et alChouliaras et al ].

Malay, E, and Knossos. GeneReviews is not responsible for the information provided by other organizations. The oral chelator deferasirox was approved for use in in some countries, [37] [38] it offers some hope with compliance at a higher cost. Hemoglobins A2 and F will be elevated on hemogram results.

Archived from the original on Prevention of secondary complications: In at-risk populations see Table 4heterozygot analysis for pathogenic variants can be performed first based on ancestry since the prevalent pathogenic variants are limited in each at-risk population. Unrelated cord blood transplantation for thalassaemia: Thalassemia carrier screening programs have educational programs in schools, armed forces, and through mass media as well as providing counseling to carriers and carrier couples.

Microcytic anemia ultimately develops in respect to inadequate HBB protein for sufficient red blood cell functioning. The baby’s supply of immunologically compatible cord blood was saved for transplantation to his brother.

Long-term efficacy and safety of deferasirox. Treating hemoglobinopathies using gene correction approaches: Bone marrow transplantation in patients with thalassemia. Comprehensive reviews of the management of thalassemia major and thalassemia intermedia have been published by the Thalassemia International Federation [ Taher et alCappellini et al ] and are available at the TIF website.


Diagnosis of beta-thalassemia by DNA amplification in single blastomeres from mouse preimplantation embryos. The classic clinical picture of thalassemia major is presently only seen in some tualassemie countries, in which the resources for carrying out long-term transfusion programs are not available. Umbilical cord blood transplantation for children with thalassemia and sickle cell disease.

A blood transfusion regimen was the first measure effective in prolonging life. Nathan and Oski’s Hematology of Infancy and Childhood 7th ed. While one person with beta thalassemia has no longer required blood transfusions following thalasseime within a research trial, it is not an approved treatment as of The result is a very hypermetabolic bone marrow with thrombocytosis, leukocytosis and microcytic anemia in the young child prior to the enlargement of their spleen.

Beta thalassemia

They are at risk for the cardiac and endocrine complications of hemosiderosis, but usually at an older age than chronically transfused children. Journal of Bone and Mineral Research.

The severity of the disease depends on the nature of the mutation and on the presence of mutations in one or both alleles.