Hemoglobin, abnormal human oxygenation

Hemoglobin synthesis may be interfered with by various mechanisms. One of the most obvious is the absence of red-cell production. This apparently occurs as a normal feature in a family of antarctic bony fish, the Chaenichthydae (Ruud, 1954). When red cells are present a decrease in the output per cell of individual hemoglobin chains is known as a heritable character in many human families. Most of the known abnormal human hemoglobins, while not unfit as oxygen carriers, are present in the red cells in subnormal amounts. 

B48. Bonaventura, J., and Riggs, A., Hemoglobin Kansas, a human hemoglobin with a neutral amino acid substitution and an abnormal oxygen equilibrium. J. Biol. Chem. 243, 980-991 (1968). 

Sickle cell anemia is a hereditary disease in which abnormally shaped red blood cells restrict the flow of blood to vital organs in the human body, causing swelling, severe pain, and in many cases a shortened life span. There is currently no cure for this condition, but its painful symptoms are known to be caused by a defect in hemoglobin, the oxygen-carrying protein in red blood cells. 

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