WordNet

an inherited form of anemia caused by faulty synthesis of hemoglobin (同)thalassaemia, Mediterranean_anemia, Mediterranean anaemia

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1. サラセミアの臨床症状および診断clinical manifestations and diagnosis of the thalassemias [show details]
…summarized in the table and are as follows: Alpha thalassemias – In alpha thalassemia major (with hydrops fetalis) or alpha thalassemia intermedia (HbH disease), HPLC performed on a blood sample from a newborn …
2. αサラセミアの病態生理pathophysiology of alpha thalassemia [show details]
…alpha thalassemia, alpha thalassemia-2 trait, or heterozygosity for alpha (+) thalassemia. Affected subjects are clinically normal and may also be hematologically normal; the diagnosis can be reliably …
3. 異型鎌状赤血球症候群の概要overview of variant sickle cell syndromes [show details]
…the genotype (-a/aa) and 2 percent have alpha thalassemia trait due to homozygous alpha thalassemia-2, with the genotype (-a/-a) . Concurrent alpha thalassemia has a beneficial effect upon the pathobiology …
4. ヘモグロビン変異の概要introduction to hemoglobin mutations [show details]
…the presence of HbH : Hemoglobin H disease is a form of alpha thalassemia with only one (out of four) alpha chain genes being present. There are two forms: deletional HbH disease (--/a-) and non-deletional …
5. サラセミア症候群の分子遺伝学的特性molecular genetics of the thalassemia syndromes [show details]
…progenitor is the most common cause of alpha thalassemia. Deletion of one or more alpha globin genes is the most common mechanism accounting for alpha thalassemia in Asian and Mediterranean populations …

Japanese Journal

X連鎖αサラセミア・精神遅滞症候群 (特集先天異常症候群の新しい展開) -- (日本が貢献した先天異常症候群)

小児科診療 79(12), 1783-1789, 2016-12
NAID 40021021547

喉頭軟化症による無呼吸発作を繰り返したX連鎖αサラセミア・精神遅滞(ATR-X)症候群の1症例

脳と発達 45(1), 44-48, 2013-01-01
NAID 10031145475

Screening for co-existence of α-thalassemia in β-thalassemia and in HbE heterozygotes via an enzyme-linked immunosorbent assay for Hb Bart's and embryonic ζ-globin chain