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. »ê¼Òģȵµ´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