the Thalassemias are Autosomal Recessive conditions. In these conditions if the child inherited one copy of the gene, e.g. one copy of the gene variant that leads to less production of beta globin protein, the child will be a healthy carriers. However if the child inherits 2 copies of the gene varient (one copy from each parent) they can have the disease, in this example Beta Thalaessemia.
when only one partner carries a gene variant, he or she can pass on to a child either the usual gene or the gene variant. Each child therefore has a 1 in 2 (50%) chance of inheriting the variant and being a healthy carrier. None of the children can have a serious haemoglobin disorder. Each child also has a 50% chance of carrying the usual gene. Healthy carriers can pass on haemoglobin gene variants for many generations, without anyone realising that a variant is "in the family".
when both partners carry a gene variant, each can pass on to a child either the usual gene or the gene variant. There are four possible combinations of genes: At each conception there is a 25% (1 in 4) probability of a child with usual haemoglobin, a 50% (1 in 2) probability of a healthy carrier, and a 25% (1 in 4) probability of a inheriting 2 copies of the gene varient and child with a thalasseamia
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