(D46.1) Refractory anaemia with ring sideroblasts

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2 030 090 in individuals diagnosis refractory anaemia with ring sideroblasts confirmed
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215 512 deaths with diagnosis refractory anaemia with ring sideroblasts
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11% mortality rate associated with the disease refractory anaemia with ring sideroblasts

Diagnosis refractory anaemia with ring sideroblasts is diagnosed Men are 4.72% more likely than Women

1 062 928

Men receive the diagnosis refractory anaemia with ring sideroblasts

122 283 (11.5 %)

Died from this diagnosis.

100
95
90
85
80
75
70
65
60
55
50
45
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15
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5
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967 162

Women receive the diagnosis refractory anaemia with ring sideroblasts

93 229 (9.6 %)

Died from this diagnosis.

Risk Group for the Disease refractory anaemia with ring sideroblasts - Men and Women aged 75-79

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In Men diagnosis is most often set at age 0-95+
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in in men, the disease manifests at any agein in women, the disease manifests at any age
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In Women diagnosis is most often set at age 0-95+

Disease Features refractory anaemia with ring sideroblasts

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Absence or low individual and public risk
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Refractory anaemia with ring sideroblasts - what does this mean

Refractory anaemia with ring sideroblasts is a rare form of anemia caused by an abnormally high number of ring sideroblasts in the bone marrow. these are red blood cells containing an excessive amount of iron due to an abnormality in the mitochondria, which is responsible for producing heme, an essential component of hemoglobin. this leads to anemia as the body cannot produce enough healthy red blood cells to carry oxygen throughout the body.

What happens during the disease - refractory anaemia with ring sideroblasts

Refractory anaemia with ring sideroblasts is a form of myelodysplastic syndrome, a type of bone marrow failure disorder. it is caused by a mutation in the gene that codes for a protein involved in heme synthesis, which results in impaired production of red blood cells. this leads to an accumulation of iron in the mitochondria of the red blood cells, which form the characteristic iron-containing ring sideroblasts. additionally, the defective red blood cells are unable to carry oxygen efficiently, leading to anaemia.

Clinical Pattern

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How does a doctor diagnose

  • Complete blood count (CBC)
  • Bone marrow biopsy
  • Immunophenotyping
  • Cytogenetic analysis
  • Flow cytometry
  • Molecular genetic testing
  • Serum iron studies

Treatment and Medical Assistance

Main goal of the treatment: To reduce symptoms and improve quality of life.
  • Perform regular physical examinations
  • Monitor blood count and iron levels
  • Administer medications to reduce symptoms
  • Prescribe iron chelation therapy
  • Provide counseling and support
  • Refer to a hematologist for further evaluation
  • Refer to a genetic counselor for genetic testing
  • Perform bone marrow biopsies to evaluate for malignancy
  • Administer transfusions as needed
  • Provide dietary advice to reduce iron overload
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12 Days of Hospitalization Required
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Average Time for Outpatient Care Not Established

Refractory anaemia with ring sideroblasts - Prevention

The best way to prevent refractory anaemia with ring sideroblasts is to maintain a healthy lifestyle, including regular exercise and a balanced diet. additionally, avoiding alcohol and smoking can help reduce the risk of developing this condition. additionally, regular medical check-ups can help detect the condition in its early stages, allowing for early treatment and better outcomes.