Dr. Neel recognized that the parents of children with thalassemia major had thalassemia minor with one beta thalassemia gene. When these parents had children, they had a 25% chance of having a thalassemia major child (with both genes for beta thalassemia), a 50% chance of having children with...
The reason that the gene for beta thalassemia is relatively common, for example, among people of Italian and Greek origin is that parts of Italy and Greece were once full ofmalaria. The presence of thalassemia minor (like the sickle cell trait in Africa) afforded protection against malaria, an...
Guidelines for Diagnosis and Management of Beta-Thalassemia Intermedia. Beta-thalassemia intermedia (尾-TI) is a genetic variant of beta-thalassemias with a clinical disorder whose severity falls between thalassemia minor and t... Karimi,Mehran,Cohan,... - 《Pediatric Hematology & Oncology》 被引...
Beta-thalassemia is caused by one or more mutations in the beta-globin gene. The absence or reduced amount of beta-globin chains causes ineffective erythropoiesis which leads to anemia.#Beta-thalassemia has been further divided into three main forms: thalassemia major, intermedia, and minor/silent...
Figure 2. Inherited pattern of thalassemia. 5. Pathophysiology The defects in the production of hemoglobin, the oxygen-carrying protein found in red blood cells, result from mutations in the genes responsible for producing the alpha- or beta-globin chains of hemoglobin. The pathophysiology of thal...
disease monitoring and treatments have been improved. BHFS has arisen as a hot topic in the α-thalassemia community over the last few years. This was owing to the emergence of the possibility of survival for this previously fatal disorder. In this article, phenotypic diversity, diagnosis, new...
As well, issues regarding the appropriate age for the initiation of deferoxamine treatment, the maintenance of balance between its effectiveness and toxicity, and the problems of compliance with deferoxamine arise frequently in the management of patients with thalassemia. ASSESSMENT OF BODY IRON Both ...
[Multiple myeloma terminating in acute myeloid leukaemia in a patient with a beta-thalassemia trait. A case report (author's transl)] 28 children with acute lymphoblastic leukaemia and 7 with malignant non-Hodgkin-lymphoma had a computerised tomography (CT) of the brain 2--84 months after......
Thalassemia Major This type develops when an individual inherits the impaired gene from both parents. Beta Thalassemia Major is also known as Cooley’s anemia. Thalassemia Minor It arises if a person gets the impaired gene from only one parent. People with this type of the disease are carriers...
Reverse dot blot probes for the screening of beta-thalassemia mutations in Asians and American blacks Hum Mutat, 3 (1994), p. 59 CrossrefView in ScopusGoogle Scholar 37 Cuppens H, Marynen P, De Boeck C, Cassiman JJ Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis all...