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(D64.0) Hereditary sideroblastic anaemia
More details coming soon
4 889 367 in individuals diagnosis hereditary sideroblastic anaemia confirmed
90 104 deaths with diagnosis hereditary sideroblastic anaemia
2% mortality rate associated with the disease hereditary sideroblastic anaemia
Diagnosis hereditary sideroblastic anaemia is diagnosed Women are 6.31% more likely than Men
2 290 469
Men receive the diagnosis hereditary sideroblastic anaemia
40 996 (1.8 %)Died from this diagnosis.
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2 598 898
Women receive the diagnosis hereditary sideroblastic anaemia
49 108 (1.9 %)Died from this diagnosis.
Risk Group for the Disease hereditary sideroblastic anaemia - Men aged 75-79 and Women aged 80-84
In Men diagnosis is most often set at age 0-95+
in in men, the disease manifests at any agein in women, the disease manifests at any age
In Women diagnosis is most often set at age 0-95+
Disease Features hereditary sideroblastic anaemia
Absence or low individual and public risk
Hereditary sideroblastic anaemia - what does this mean
Hereditary sideroblastic anaemia is a rare inherited disorder caused by a genetic mutation that impairs the body's ability to produce healthy red blood cells. this leads to the body's inability to absorb iron, resulting in a deficiency of iron in the blood and the accumulation of iron in the bone marrow, leading to anaemia.
What happens during the disease - hereditary sideroblastic anaemia
Hereditary sideroblastic anaemia is a rare inherited disorder caused by a genetic mutation that affects the production of red blood cells. it is caused by a deficiency of the enzyme ferrochelatase, which is involved in the synthesis of heme. this leads to an accumulation of iron in the mitochondria of red blood cells, resulting in their premature destruction and a decrease in the number of red blood cells produced. this causes anaemia, fatigue, and an increased risk of infection.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete blood count (CBC)
- Peripheral blood smear
- Bone marrow biopsy and aspiration
- Serum ferritin
- Serum iron
- Serum transferrin
- Serum transferrin saturation
- Serum vitamin B12 and folate
- Serum copper
- Serum zinc
- Genetic testing
Treatment and Medical Assistance
Main goal: To improve the patient's quality of life and reduce the symptoms of the disease.
- Administering iron chelation therapy
- Prescribing vitamin B6 supplements
- Prescribing folic acid supplements
- Prescribing blood transfusions
- Prescribing medications to reduce inflammation
- Performing bone marrow transplants
- Providing dietary advice and nutritional support
- Recommending lifestyle changes to reduce stress
- Monitoring the patient's blood counts and other vital signs
13 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Hereditary sideroblastic anaemia - Prevention
Hereditary sideroblastic anaemia is a genetic disorder, and therefore prevention is not possible. however, early diagnosis and timely treatment can help to reduce the severity of the symptoms and prevent long-term complications. genetic counselling can also be beneficial for families with a history of the disorder.