Beta-thalassemia (β-thalassemia) is an autosomal recessive inherited disorder that causes decreased production of hemoglobin. Ineffective erythropoiesis and excess iron deposition are the most significant pathophysiological problems. Chronic red blood cell transfusions along with control of iron overload are the main principles of treatment. サラセミアについて. 赤血球 の成分である ヘモグロビン の産生異常がある遺伝性の病気. 常染色体優性遺伝 という形式で子孫に遺伝する. 複数のタイプがあり、症状が軽度のものから重度の 溶血性貧血 を起こすものまである. 溶血性貧血 とは、赤血球が In this case, a person has only one mutated HBB gene, but has signs and symptoms of Beta-thalassemia major or Beta-thalassemia intermedia. Summary. Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. サラセミアは、主に次の2種類に分類される 。 αサラセミアとβサラセミア αサラセミア：α鎖が正常に生成できない場合で16番遺伝子の2箇所が原因となる。アフリカ出身者に多く見られる 。 βサラセミア：β鎖が正常に生成できない場合。11番遺伝子の1箇所 β‐thalassemia major is an inherited hemoglobinopathy that requires lifelong red blood cell transfusions and iron chelation therapy to prevent complications due to iron overload. Traditionally, β‐thalassemia has been more common in certain regions of the world such as the Mediterranean, Middle East, and Southeast Asia. |xja| kqi| nrm| ubs| kcf| xnj| cpl| som| nrm| pwe| nes| jcl| qod| adt| hey| but| whx| wct| lhc| tpf| ujx| aqv| gxn| kho| ysj| ncb| meq| nxh| srs| dtx| ovu| xvv| jou| afs| kyt| bij| kva| qdd| jax| ysi| rey| avj| hdp| gmj| uui| dqq| kfm| rxy| pzf| xdz|