HBA1, the gene encoding α1-globin, and HBA2, the gene encoding α2-globin, are the two genes most commonly associated with α-thalassemia. Molecular genetic testing of HBA1 and HBA2 detects deletions in about 90% and point mutations in about 10% of affected individuals. Treatment of ...
HBA1, the gene encoding α1-globin, and HBA2, the gene encoding α2-globin, are the two genes most commonly associated with α-thalassemia. Molecular genetic testing of HBA1 and HBA2 detects deletions in about 90% and point mutations in about 10% of affected individuals. Treatment of ...
Alpha-thalassemia α-地中海贫血 genetic disorder/disease遗传性疾病 deficiency缺乏,减少 globin chains 珠蛋白链 hemogloin血红蛋白(RBC中的携氧蛋白) heme group血红素基团 hemoglobin F,HbF血红蛋白F fetal hemoglobin胎儿血红蛋白 synthesis合成 chromosome16 16号染色体 mutation(基因)突变 mutated gene突变基因 gene ...
You already have a child with a serious genetic condition You have a family history of a serious genetic condition, or You have a family history of chromosome problems. Examples of some common single gene disorders Alpha thalassemiaHemophilia A & B ...
Related to Alpha-thalassemia:Beta-thalassemia,hemoglobin H disease thal·as·se·mi·a (thăl′ə-sē′mē-ə) n. An inherited form of anemia occurring chiefly among people of Mediterranean descent, caused by faulty synthesis of part of the hemoglobin molecule. Also calledMediterranean anemia...
Our son was diagnosed with ATR-X (alpha thalassemia intellectual disability x-linked syndrome) in June 2016. My husband and I received the diagnosis via a phone call from our geneticist while sitting in a grocery store parking lot in our car. That phone call changed our lives but we’d kn...
Alpha-thalassemia x-linked intellectual disability(ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness ( hypotonia ), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. ...
Alpha thalassemia/mental retardation syndrome X-linked (ATRX) is a member of the SWI/SNF protein family of DNA-dependent ATPases. It functions as a chromatin remodeler and is classified as an SNF2-like helicase. Here, we showed somatic knock-out of ATRX displayed perturbed S-phase ...
alpha-naphthylthiourea alpha-oxidation Alphaparin alpha-receptor alpha-ribazole alpha-sarcin alpha-synuclein alpha-T Alpha-thalassemia alphatherapy alphatocopherol alpha-tocopherol alphavirus alphaviruses alphodermia alphonsin Alphosyl alpine Alport Alport syndrome ▼...
Synthesis defects are caused by a genetic change in the factors that control normal globin chain production, so that either alpha or beta globin is underproduced. This type of hemoglobinopathy produces a group of disorders known as the thalassemia syndromes; as in those with sickle cell trait, ...