Autosomal recessive disease
When in a family more than one child is born with a condition, the cause may be an autosomal recessive disease. In autosomal recessive diseases the parents are carriers of one abnormal gene and one normal gene. Children receiving the abnormal gene from both parents at their conceptions will have the disease. Thus, each child of these parents has a 25% risk of the inherited disorder. When children are just boys one should also consider an X-linked inheritance and ask for more affected men through the female line (mothers). Examples of an autosomal recessive disease:
Shwachman Diamond Syndrome
Shwachman-Diamond syndrome is complex condition which affects different body functions.
The pancreas produces less enzymes for the uptake of food.
The bone marrow malfunctions and...
Sickle Cell Disease
Sickle cell disease (SCD) is a red blood cell disease, a complex inherited disorder with multisystem manifestations that requires specialized comprehensive care to achieve an optimal...
Thalassemia major or Beta Thalassemia
The thalassemias are a group of genetically (inherited) blood disorders that share in common one feature; the defective production of hemoglobin which is the protein...
