Hereditary folate deficiency anaemia is an inherited disorder caused by a deficiency of the enzyme dihydrofolate reductase (DHFR) in the body. This enzyme is responsible for converting dietary folate into the active form, tetrahydrofolate, which is necessary for red blood cell production. A mutation in the DHFR gene leads to decreased activity of the enzyme, resulting in a deficiency of folate in the body and anaemia.
Diagnosis of hereditary folate deficiency anaemia is based on a physical examination, laboratory tests and family history. Symptoms of anaemia such as fatigue, pallor, and shortness of breath may be present. Laboratory tests such as complete blood count, serum folate level, and DHFR activity may be performed to confirm the diagnosis.
The differential diagnosis of hereditary folate deficiency anaemia includes other forms of anaemia such as iron deficiency anaemia, vitamin B12 deficiency anaemia, and thalassemia.
Treatment for hereditary folate deficiency anaemia involves supplementation with folic acid and B12. A low-folate diet may also be recommended to reduce the body’s need for folate. In some cases, medications such as methotrexate may be prescribed to manage symptoms.
The prognosis for hereditary folate deficiency anaemia is generally good with proper treatment. Supplementation with folic acid and B12 can help to improve symptoms and prevent further complications. However, it is important to note that the condition is often lifelong and may require ongoing monitoring and treatment.