Hexokinase deficiency hemolytic anemia
Nonspherocytic Hemolytic Anemia due to Hexokinase Deficiency, Non-spherosytic hemolytic anemia (NSHA)
Type of disease: Rare conditions
Hexokinase deficiency hemolytic anemia is a disease that affects red blood cells. It is also known as non-spherosytic hemolytic anemia (NSHA). NSHA is caused by an inherited gene mutation, making a family history an increased risk of having the disease. It is inherited recessively, which means that an individual must get two copies of the mutated gene (one from each parent) to be affected.
The gene mutation associated with NSHA causes a defect in the enzyme called hexokinase. This enzyme helps break down sugar in the body. When sugar is not properly broken down, red blood cells do not get the energy that they need to function normally. As a result, red blood cells destroy themselves too early. This causes the affected individual to have a low red blood cell count (anemia). A low red blood cell count can lead to symptoms such as jaundice (yellowed skin), tiredness, dizziness, and pale skin.
Treatment for NSHA includes blood transfusions in order to gain more healthy red blood cells into the body. If you or a family member has been diagnosed with NSHA, talk to your doctor about the most current treatment options. Support groups are also a good resource for information.