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Mutations in the gene produce several variants of the proteins which are implicated with genetic disorders such as sickle-cell disease and beta thalassemia, as well as beneficial traits such as genetic resistance to malaria. [6] [7] At least 50 disease-causing mutations in this gene have been discovered. [8]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
HbC can combine with other abnormal hemoglobins and cause serious hemoglobinopathies. Individuals with sickle cell–hemoglobin C (HbSC), have inherited the gene for sickle cell disease (HbS) from one parent and the gene for hemoglobin C disease (HbC) from the other parent. Since HbC does not polymerize as readily as HbS, there is less sickling ...
Such disorders include cystic fibrosis, [27] sickle cell disease, [28] phenylketonuria [29] and thalassaemia. [ 30 ] Hereditary defects in enzymes are generally inherited in an autosomal fashion because there are more non-X chromosomes than X-chromosomes, and a recessive fashion because the enzymes from the unaffected genes are generally ...
Thalassemias are inherited blood disorders that result in abnormal hemoglobin. [7] Symptoms depend on the type of thalassemia and can vary from none to severe. [1] Often there is mild to severe anemia (low red blood cells or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. [1]
Because the genetic disorder is incompletely recessive, a person with only one SCA allele and one unaffected allele will have a "mixed" phenotype: The sufferer will not experience the ill effects of the disease, yet will still possess a sickle cell trait, whereby some of the red blood cells undergo benign effects of SCA, but nothing severe ...
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