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In this case all 4 alpha-globin genes are missing, malfunctioning or defective. These infants are usually stillborn because they have little or no ability to make fetal haemoglobin (haemoglobin F), the predominant form or haemoglobin in the developing fetus. Haemoglobin F normally consists of 2 alpha-globins and 2 gamma-globins. Individuals with alpha thalassaemia major can make only gamma-globins, so haemoglobin F will not form properly. Without haemoglobin F the developing fetus has no means to acquire oxygen from its mother and as a result they usually suffer from
in utero hypoxia.
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