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Chap 106. Hemoglobinopathies

I. Properties of the human hemoglobins

1. Hb structure

¹è¾Æ±â, žÆ, ¼ºÀα⠵¿¾È ´Ù¸¥ HbÀÌ »ý»êµÈ´Ù.

°¢°¢Àº globin polypeptide chainsÀÇ tetramer·Î ÀÌ·ç¾îÁø´Ù.

¥á-like chains: 141 amino acids

¥â-like chains: 146 amino acids

major adult Hb: HbA(¥á2¥â2), HbF(¥á2¥ã2)

minor adult Hb: HbA2(¥á2¥ä2)

2. Function of Hb

oxygen transport¸¦ À§ÇØ HbÀº O2¿Í °áÇÕÇϰí, Á¶Á÷¿¡¼­´Â O2¸¦ À¯¸®ÇØ¾ß ÇÑ´Ù.

³·Àº »ê¼ÒºÐ¾Ð¿¡¼­ Hb tetramer´Â ¿ÏÀüÈ÷ deoxygenationµÈ´Ù(Fig 106-2).

»ê¼Ò°áÇÕÀº O2ºÐ¾ÐÀÌ Áõ°¡ÇÔ¿¡ µû¶ó õõÈ÷ °áÇÕÇÑ´Ù. »ê¼Òģȭµµ´Â ¸î°¡Áö ÀÎÀÚ¿¡ ÀÇÇØ

Á¶ÀýµÈ´Ù.

low pH, 2,3-BPG, ü¿ÂÁõ°¡ : O2 affinity¡é

II. Classification of hemoglobinopathies

Tab 106-1 5 major classes

1. ¿ªÇÐ

hemoglobinopathy´Â malaria°¡ À¯ÇàÇÏ´Â Áö¿ª¿¡ ÈçÇÏ´Ù.

¥á-thalassemia¸¦ °¡Áø ¸Å¿ì ¾î¸°¾ÆÀÌ´Â Plasmodium vivax¿¡ °¨¿°µÉ À§ÇèÀÌ ´õ Å©´Ù.

III. Structurally abnormal hemoglobins

1. Sickle cell syndromes

sickle cell syndromesÀº ¥â-globin gene mutation¿¡ ÀÇÇØ ÀϾ´Ù. 6¹øÂ° a.aÀÎ glutamic

acid°¡ valineÀ¸·Î º¯È­(¥á2¥â26Glu->Val)

ÀÌ·± º¯È­´Â Ư¡ÀûÀÎ sickle shapeÀ» ¸¸µç´Ù. sickle cellsÀº ÀÛÀº ¸ð¼¼Ç÷°üÀ» Åë°úÇϴµ¥

ÇÊ¿äÇÑ À¯¿¬¼ºÀ» »ó½ÇÇÑ´Ù.

IV. Thalassemia syndromes