Sideroblastic anemia pyridoxine-refractory autosomal recessive

Other Names: Pyridoxine refractory sideroblastic anemia; Refractory anemia with ringed sideroblasts; RARS; AISA; Primary acquired sideroblastic anemia; Acquired idiopathic sideroblastic anemia Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited blood disorder that is characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of people with this anemia.

Cause

Sideroblastic anemia pyridoxine-refractory autosomal recessive is caused by mutations in the SLC25A38 gene.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive fashion. If you are born to parents who carry the same autosomal recessive change (mutation), you have a 1 in 4 chance of inheriting the abnormal gene from both parents and developing the disease. You have a 50% (1 in 2) chance of inheriting one abnormal gene. This would make you a carrier.

In other words, for a child born to a couple who both carry the gene (but do not have signs of disease), the expected outcome for each pregnancy is:

A 25% chance that the child is born with two normal genes (normal) A 50% chance that the child is born with one normal and one abnormal gene (carrier, without disease) A 25% chance that the child is born with two abnormal genes (at risk for the disease)

Signs and symptoms

The symptoms of sideroblastic anemia are the same as for any anemia and iron overload.These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales. Some people with sideroblastic anemia develop diabetes or abnormal glucose tolerance which may or may not be related to the degree of iron overload. The most dangerous complication of iron overload are heart arrhythmias and heart failure, which usually occur late in the course of the disease. In severely affected children, growth and development may be affected. In sideroblastic anemia pyridoxine-refractory autosomal recessive the anemia generally remains stable over many years. However, in some individuals there is an unexplained progression of the anemia over time.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Refractory anemia with ringed sideroblasts

30%-79% of people have these symptoms

• Megaloblastic erythroid hyperplasia
• Normochromic anemia
• Normocytic anemia
• Pallor

5%-29% of people have these symptoms

• Abnormal fingernail morphology(Abnormal fingernails)
• Abnormal number of granulocyte precursors
• Chronic infection
• Dysplastic granulopoesis
• Hepatomegaly(Enlarged liver)
• Hypochromic anemia
• Hyposegmentation of neutrophil nuclei
• Splenomegaly(Increased spleen size)
• Thrombocytopenia(Low platelet count)

1%-4% of people have these symptoms

• Abnormal bleeding(Bleeding tendency)
• Acute myeloid leukemia
• Bone marrow hypocellularity(Bone marrow failure)
• Congestive heart failure(Cardiac failure)
• Granulocytopenia
• Increased megakaryocyte count
• Leukocytosis(Elevated white blood count)
• Neutropenia(Low blood neutrophil count)
• Pancytopenia(Low blood cell count)
• Thrombocytosis(Increased number of platelets in blood)

Diagnosis

Diagnosis requires examination of both blood and bone marrow, investigation into possible secondary acquired causes and careful attention to any family and clinical history that would suggest an inherited type of sideroblastic anaemia .

Differential diagnosis RARS can be separated from other categories of MDS by the presence in the bone marrow of more than 15% of ringed sideroblasts in the erythroid cells, an absence of dysplasia in the other cell lineages and a low percentage of myeloid blasts (<5%).

Treatment

Currently there is not a cure for sideroblastic anemia pyridoxine-refractory autosomal recessive, however with proper treatment the life-expectancy of people with this anemia can be close to normal. Treatments are aimed at preventing organ damage from iron overload, and controlling symptoms of anemia. People with severe anemia may require periodic transfusions. Transfusions of red cells are kept to a minimum, to avoid accelerating iron overload. Treatment of iron overload involves an iron depletion program, such as therapeutic phlebotomy or iron chelation. Total splenectomy is contraindicated in this disorder. This form of sideroblastic anemia is not associated with an increased risk for leukemia.

A few small studies have described the use of allogenic bone marrow or stem cell transplantation for hereditary and congenital forms of sideroblastic anemia. While these therapies may offer the possibility of a cure, the complications associated with transplantation surgery must be considered.

All patients with sideroblastic anemia should be followed by a hematologist and avoid alcohol.

NIH genetic and rare disease info

• NIH info on Sideroblastic anemia pyridoxine-refractory autosomal recessive

Sideroblastic anemia pyridoxine-refractory autosomal recessive is a rare disease.

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