Definition

What is sideroblastic anemia pyridoxine-refractory autosomal recessive?

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.

How common is sideroblastic anemia pyridoxine-refractory autosomal recessive?

Please discuss with your doctor for further information.

Symptoms

What are the symptoms of sideroblastic anemia pyridoxine-refractory autosomal recessive?

The symptoms of sideroblastic anemia are the same as for any anemia and iron overload.

The common symptoms of sideroblastic anemia pyridoxine-refractory autosomal recessive are 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.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes sideroblastic anemia pyridoxine-refractory autosomal recessive?

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

Risk factors

What increases my risk for sideroblastic anemia pyridoxine-refractory autosomal recessive?

Risk factors of sideroblastic anemia pyridoxine-refractory autosomal recessive include:

  • Genetic factor. Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited disorder.

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is sideroblastic anemia pyridoxine-refractory autosomal recessive diagnosed?

Diagnosis is based on clinical findings together with full blood examination including blood smear and reticulocyte count, measurement of iron stores and bone marrow aspirate showing ringed sideroblasts. Unresponsiveness to pyridoxine treatment often leads to confirming SLC25A38 gene mutation analysis.

Differential diagnosis

Differential diagnosis includes other types of sideroblastic anemia and particularly bears resemblance with X-linked sideroblastic anemia (XLSA, see this term).

Antenatal diagnosis

In case of family history, prenatal diagnosis by amniocentesis or chorionic villus sampling and cytogenetic analysis is possible, as early diagnosis in a child may be of great benefit for treatment of anemia and avoidance of iron overload, historically the main cause of early death.

Genetic counseling

The SLC25A38 gene mutation is transmitted as an autosomal recessive trait. Genetic counseling should be offered to affected individuals and their families informing them of the possibilities of carrier testing for at-risk family members and the genetic risk for transmitting it on to their children.

How is sideroblastic anemia pyridoxine-refractory autosomal recessive treated?

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.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage sideroblastic anemia pyridoxine-refractory autosomal recessive?

The following lifestyles and home remedies might help you cope with sideroblastic anemia pyridoxine-refractory autosomal recessive:

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

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 11, 2018 | Last Modified: February 11, 2018

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