Defective Synthesis of an Unstable Haemoglobin: Haemoglobin Koln (β<sup>98</sup>Val‐Met)

Summary. The in vitro synthesis of haemoglobin A and the unstable haemoglobin, haemoglobin Köln, has been studied using reticulocytes from a patient heterozygous for these two haemoglobins.The proportions of the two haemoglobins synthesized were: 80% haemoglobin A and 20% haemoglobin Köln. The small amount of haemoglobin Köln synthesized has been found to be due to a deficiency in the synthesis of βKoln‐chains. The deficiency of βKoln‐chains results in an excess production of α‐chains by the reticulocytes, which can be detected as a free α‐chain pool. The excess α‐chains are available to combine with βA‐chains to synthesize haemoglobin A.The overall result is a preferential synthesis of haemoglobin A over haemoglobin Köln. The deficiency in the synthesis of the unstable haemoglobin probably explains the comparatively mild degree of haemolysis found in haemoglobin Köln disease.

Defective Synthesis of an Unstable Haemoglobin: Haemoglobin Koln (β⁹⁸Val‐Met) Journal Articles