autosomal dominant sideroblastic anemia 4

Autosomal Dominant Sideroblastic Anemia (ADSA) is a rare genetic disorder that affects the production of red blood cells in the bone marrow.

Characteristics of ADSA:

• Inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is enough to cause the condition [4][8]
• Characterized by ineffective erythropoiesis, which leads to anemia and other related complications [3][7]
• Red cell precursors are present in the bone marrow, but they are not properly developed or matured [1]

Other relevant information:

• ADSA is a type of sideroblastic anemia, which is a group of rare heterogeneous inherited or acquired bone marrow disorders [9]
• Hereditary sideroblastic anemias, including ADSA, result from various genetic mechanisms, such as X-linked, autosomal dominant, and autosomal recessive inheritance patterns [6]

References:

[1] A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow ...

[3] Definition: A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. Term Browser · Genes (1) · Models (0). Parent term(s).

[4] Traits & Categories for Autosomal Dominant Sideroblastic Anemia

[6] Hereditary sideroblastic anemias, which are rare and diverse, result from a number of genetic mechanisms (X-linked, autosomal dominant, autosomal recessive)

[7] ▽ Description. Sideroblastic anemia comprises a heterogeneous group of inherited and acquired disorders characterized by ineffective erythropoiesis. Anemia, if ...

[8] Accession: DOID:0060335, term browser browse the term ; Definition: A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. (DO)

[9] Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome.

Based on the provided context, here are the signs and symptoms of autosomal dominant sideroblastic anemia:

• Fatigue [3]
• Jaundice [3]
• Irritability [3]
• Exercise/feeding intolerance [3]
• Exertional dyspnea [3]

Additionally, common features of sideroblastic anemias include: * Fatigue [1][5] * Dizziness [1][5] * A rapid heartbeat [1][5] * Pale skin [1][5] * An enlarged liver and spleen (hepatosplenomegaly) [1][5]

It's worth noting that the clinical manifestations of autosomal dominant sideroblastic anemia can vary according to the underlying pathophysiologic cause, as mentioned in [6].

Based on the provided context, here are the diagnostic tests for autosomal dominant sideroblastic anemia:

• Bone marrow morphology with Prussian blue iron staining is considered the most useful diagnostic laboratory test for this condition [8][9]. This test reveals abnormally large ringed sideroblasts in the bone marrow.
• Complete blood cell count (CBC) and peripheral smear may also be performed to assess the severity of anemia and detect any abnormalities in red blood cells [3].
• Iron studies, such as serum iron and transferrin saturation levels, can help diagnose iron overload associated with this condition [3].
• Molecular genetics tests, including deletion/duplication analysis and sequence analysis, may be ordered to identify genetic mutations responsible for autosomal dominant sideroblastic anemia [2].

It's worth noting that a bone marrow biopsy is typically required for diagnosis of this condition, as it allows for the examination of ringed sideroblasts in the bone marrow [5].

Based on the provided context, it appears that there are limited specific treatment options mentioned for autosomal dominant sideroblastic anemia.

However, some general information can be inferred from the context:

• The mainstay of therapy for most severe sideroblastic anemias remains RBC transfusions [5].
• Oral pyridoxine is used in some patients with either congenital or acquired sideroblastic anemia with partial response [6].
• Treatment is supportive and involves hematological monitoring, the surveillance of iron levels, and nearly always comprises chronic blood transfusions [8].

It's worth noting that autosomal dominant sideroblastic anemia is not explicitly mentioned in the provided context. The context seems to focus more on X-linked sideroblastic anemia (XLSA) and other forms of sideroblastic anemia.

Therefore, it's difficult to provide a specific answer for drug treatment of autosomal dominant sideroblastic anemia based on the given context. However, some general principles of treatment can be inferred:

• Supportive care, including hematological monitoring and iron level surveillance
• Chronic blood transfusions may be necessary in severe cases
• Oral pyridoxine may have a partial response in some patients

Please note that this answer is based on the provided context and might not be comprehensive or specific to autosomal dominant sideroblastic anemia.

Differential Diagnosis of Autosomal Dominant Sideroblastic Anemia

Autosomal dominant sideroblastic anemia is a rare genetic disorder that affects the production of hemoglobin in red blood cells. The differential diagnosis for this condition involves ruling out other possible causes of microcytic anemia, which can be similar in presentation.

Possible Differential Diagnoses:

• Iron deficiency: This is the most common cause of microcytic anemia and should always be ruled out first.
• Anemia of chronic disease: This type of anemia is often seen in patients with chronic infections or inflammatory conditions.
• Hereditary X-linked sideroblastic anemia: This is another genetic disorder that affects hemoglobin production, but it is inherited in an X-linked pattern.
• Lead poisoning: While rare, lead poisoning can cause microcytic anemia and should be considered in the differential diagnosis.

Key Points to Consider:

• Autosomal dominant inheritance (75%) [13]
• Microcytic anemia with ring sideroblasts in the bone marrow aspirate is a hallmark of sideroblastic anemia [11]

References:

[4] The mitochondrion is the nexus of sideroblastic anemia, however. ... , although some family studies have revealed autosomal dominant or autosomal recessive modes of transmission (Cox et al, 1990). ... Sideroblastic anemia remains in the differential diagnosis of patients with iron deficiency and anemia that is refractory to iron replacement. A [4]

[13] Differential diagnosis of microcytic anemia • Iron deficiency • Anemia of chronic disease ... • Hereditary X-linked sideroblastic anemia • Lead poisoning (usually mild microcytosis) Iron deficiency anemia • Common nutritional deficiency • Bleeding is a leading cause of iron deficiency anemia ... • Autosomal dominant inheritance (75%) [13]