Sickle cell disorders or other haemoglobinopathies (Q39523): Difference between revisions
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Qualquer transtorno causado por uma mutação da HbS no gene da hemoglobina. Este transtorno é caracterizado por glóbulos vermelhos anormais rígidos em formato de foice com diminuição da capacidade de transportar oxigênio. Este transtorno pode se manifestar com fadiga, falta de ar, tontura, dor de cabeça, palidez de pele ou mucosas e icterícia. Este transtorno é confirmado pela identificação da mutação da HbS por testagem genética. | |||
| description / en | description / en | ||
Any disorder caused by a HbS mutation in the haemoglobin gene. This disorder is characterised by abnormal rigid sickle-shaped red blood cells decreasing its ability to carry oxygen. This disorder may present with fatigue, shortness of breath, dizziness, headaches, pallor of skin or mucous membranes, and jaundice. This disorder is confirmed by identification of HbS mutation by genetic testing. | |||
Revision as of 04:58, 13 August 2026
Any disorder caused by a HbS mutation in the haemoglobin gene. This disorder is characterised by abnormal rigid sickle-shaped red blood cells decreasing its ability to carry oxygen. This disorder may present with fatigue, shortness of breath, dizziness, headaches, pallor of skin or mucous membranes, and jaundice. This disorder is confirmed by identification of HbS mutation by genetic testing.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 3A51 |
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| English | Sickle cell disorders or other haemoglobinopathies |
Any disorder caused by a HbS mutation in the haemoglobin gene. This disorder is characterised by abnormal rigid sickle-shaped red blood cells decreasing its ability to carry oxygen. This disorder may present with fatigue, shortness of breath, dizziness, headaches, pallor of skin or mucous membranes, and jaundice. This disorder is confirmed by identification of HbS mutation by genetic testing. |
