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A.D.A.M. Medical Encyclopedia [Internet]. Atlanta (GA): A.D.A.M.; 2013.
A.D.A.M. Medical Encyclopedia.
Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families.
An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.
Information
Inheriting a specific disease, condition, or trait depends on the type of chromosome affected (autosomal or sex chromosome). It also depends on whether the trait is dominant or recessive.
A mutation in a gene on one of the first 22 nonsex chromosomes can lead to an autosomal disorder.
Genes come in pairs. Recessive inheritance means both genes in a pair must be defective to cause disease. People with only one defective gene in the pair are considered carriers. However, they can pass the abnormal gene to their children.
CHANCES OF INHERITING A TRAIT
If you are born to parents who both carry an autosomal recessive change (mutation), you have a 1 in 4 chance of getting the malfunctioning genes from both parents and developing the disease. You have a 50% (1 in 2) chance of inheriting one abnormal gene. This would make you a carrier.
In other words, if four children are born to a couple who both carry the gene (but do not have signs of disease), the statistical expectation is as follows:
- One child is born with two normal genes (normal)
- Two children are born with one normal and one abnormal gene (carriers, without disease)
- One child is born with two abnormal genes (at risk for the disease)
Note: This does not mean that children will necessarily be a carrier or have be affected.
See also:
- Genetic counseling and prenatal diagnosis
Review Date: 5/16/2012.
Reviewed by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.
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Transplantation of blood‐forming stem cells for people with ß‐thalassaemia major
Thalassaemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of haemoglobin (the protein in red blood cells that carries oxygen). The disorder results in excessive destruction of red blood cells, which, without blood transfusions, leads to anaemia and causes significant mortality and morbidity. The anaemia can be treated effectively with regular blood transfusions. However, these lead to the accumulation of iron, which, unless treated with regular iron chelation, causes multiorgan disease and early death. Although ß‐thalassaemia major responds to this conventional treatment to correct haemoglobin status, the treatment does not provide a cure. The use of hematopoietic (blood‐forming) stem cell transplantation involves replacing the unhealthy hematopoietic stem cells with normal hematopoietic stem cells from a healthy donor. These stem cells then produce normal red blood cells containing normal amounts of globin chains. Stem cells can be derived from either the bone marrow or blood (umbilical cord blood or peripheral blood) of a healthy individual. The review authors did not find any randomised controlled trials assessing the effectiveness and safety of different types of stem cell transplantation in people with severe transfusion‐dependant ß‐thalassaemia major or ß0/+‐ thalassaemia variants requiring chronic blood transfusion.
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- Autosomal recessiveAutosomal recessivePubMed Health
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