Sideroblastic anemia, autosomal

Sideroblastic anemia, autosomal
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Fatigue, weakness, pallor
Complications	Iron overload, organ damage
Onset	Variable
Duration	Chronic
Types	N/A
Causes	Genetic mutations
Risks	N/A
Diagnosis	Blood tests, bone marrow biopsy
Differential diagnosis	N/A
Prevention	N/A
Treatment	Vitamin B6, blood transfusions, iron chelation
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Sideroblastic anemia, autosomal is a type of sideroblastic anemia that is inherited in an autosomal pattern. Sideroblastic anemias are a group of blood disorders characterized by the presence of ringed sideroblasts in the bone marrow. These are erythroblasts (immature red blood cells) with iron-loaded mitochondria arranged in a ring around the nucleus.

Pathophysiology

Sideroblastic anemia results from defects in the heme synthesis pathway or iron-sulfur cluster biogenesis, leading to ineffective erythropoiesis and iron accumulation in the mitochondria of erythroblasts. In autosomal sideroblastic anemia, the genetic mutations responsible are located on the autosomes, as opposed to the X-linked form of the disease.

Genetics

Autosomal sideroblastic anemia can be caused by mutations in several genes, including:

• ALAS2 - Although primarily associated with X-linked sideroblastic anemia, mutations in this gene can also be involved in autosomal forms.
• SLC25A38 - Mutations in this gene are a common cause of autosomal recessive sideroblastic anemia. This gene encodes a mitochondrial carrier protein involved in the transport of glycine and other substrates necessary for heme synthesis.
• GLRX5 - Mutations in this gene can lead to impaired iron-sulfur cluster biogenesis, contributing to the development of sideroblastic anemia.

Clinical Features

Patients with autosomal sideroblastic anemia typically present with symptoms of anemia, such as fatigue, weakness, and pallor. Due to ineffective erythropoiesis, there is often iron overload, which can lead to complications such as liver damage, diabetes, and heart disease.

Diagnosis

Diagnosis of sideroblastic anemia involves:

• Complete blood count (CBC) showing microcytic or normocytic anemia.
• Peripheral blood smear revealing hypochromic red blood cells.
• Bone marrow biopsy demonstrating ringed sideroblasts.
• Genetic testing to identify specific mutations.

Treatment

Treatment strategies for autosomal sideroblastic anemia include:

• Vitamin B6 (pyridoxine) supplementation: Some patients respond to high doses of vitamin B6, which is a cofactor for ALAS2.
• Blood transfusions: To manage severe anemia.
• Iron chelation therapy: To reduce iron overload and prevent organ damage.

Prognosis

The prognosis for individuals with autosomal sideroblastic anemia varies depending on the specific genetic mutation and the severity of iron overload. Early diagnosis and management of iron overload are crucial to improving outcomes.

Also see

• Sideroblastic anemia
• Anemia
• Iron overload
• Heme synthesis