Hemoglobinopathy - Hemoglobinopathy

Japanese: 異常ヘモグロビン症 - いじょうへもぐろびんしょう(英語表記)Hemoglobinopathy
Hemoglobinopathy - Hemoglobinopathy
[What kind of disease is it?]
There is a genetic problem that causes hemoglobin (blood pigment) to take an abnormal shape, and the various blood disorders that result from this are collectively called abnormal hemoglobinopathies.
The main diseases include sickle cell anemia, thalassemia, and unstable hemoglobinopathy.
This disease is inherited by children if one of the parents has an abnormality (autosomal dominant), but it can also occur due to a mutation.
[Symptoms]
Even if haemoglobin is abnormal, in most cases it still functions normally and therefore causes no symptoms.
However, if red blood cells become deformed and cause hemolytic anemia ("hemolytic anemia"), or if their ability to bind oxygen becomes higher or lower than normal, and hemoglobin synthesis becomes less effective, treatment is indicated in these cases.
Abnormal hemoglobin has different electrical properties from normal hemoglobin, and this property can be used to detect it in blood.
Ultimately, the diagnosis is made by examining the shape of red blood cells for abnormalities or unstable properties, and combining these with the results of various tests.
[Treatment]
The following three diseases are described:
■ Sickle cell anemia This is a disease that is rarely seen in Japanese people. With this disease, the whole body is weakened due to hemolysis and blood circulation disorders, so we improve the environment and nutrition, and work to prevent and treat infections. Blood transfusions and the use of folic acid are also performed.
■ In thalassemia, red blood cells are small and hemoglobin is low, causing hemolysis, so blood transfusions, removal of the spleen, and use of folic acid are performed.
Hemoglobinemia: Red blood cells become deformed. The condition can range from mild to severe. In severe cases, treatment is similar to that for thalassemia.

Source: Shogakukan Home Medical Library Information

Japanese:
[どんな病気か]
 遺伝的な問題があって、ヘモグロビン(血色素(けっしきそ))が異常な形になり、そのためにおこるさまざまな血液の病気をまとめて、異常ヘモグロビン症といいます。
 おもな病気としては鎌状赤血球貧血(かまじょうせっけっきゅうひんけつ)、サラセミア、不安定(ふあんてい)ヘモグロビン症(しょう)などがあります。
 この病気は、両親のどちらかに異常があれば、それが子どもに遺伝します(常染色体優性遺伝(じょうせんしょくたいゆうせいいでん))が、突然変異によって発症することもあります。
[症状]
 ヘモグロビンが異常でも、大部分はそのはたらきに問題はなく、したがって症状はありません。
 しかし、赤血球(せっけっきゅう)が変形して溶血性貧血(「溶血性貧血」)をおこしたり、酸素との結合能力が正常より高くなったり低くなったりする場合、さらにヘモグロビンの合成がうまくできなくなることもあり、この場合に治療対象となります。
 異常ヘモグロビンは、電気的な性質が正常なものとちがうので、その性質を利用して血液から検出します。
 最終的には、赤血球の形の異常や性質の不安定性を調べ、いろいろな検査結果と合わせて診断します。
[治療]
 つぎの3つの病気について解説します。
■鎌状赤血球貧血
 日本人にはほとんどみられない病気です。この病気では、溶血と血行障害による全身の衰弱がみられるので、環境や栄養をよくし、感染の予防と治療につとめます。輸血、葉酸(ようさん)の使用も行なわれます。
■サラセミア
 赤血球が小さく、ヘモグロビンも少なく、溶血をおこすので、輸血、脾臓(ひぞう)の切除、葉酸の使用などが行なわれます。
■不安定ヘモグロビン症
 赤血球が変形しますが、軽症から重症まであります。重症の場合は、ほぼサラセミアと同じような治療をします。

出典 小学館家庭医学館について 情報

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