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pyridoxine-responsive sideroblastic anemia

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Description

Pyridoxine-responsive Sideroblastic Anemia: A Rare but Treatable Condition

Pyridoxine-responsive sideroblastic anemia is a rare type of anemia that is characterized by the accumulation of iron in the mitochondria of red blood cells, leading to ineffective erythropoiesis. This condition is often associated with reduced activity of 5-aminolevulinate synthase, an enzyme crucial for heme synthesis [1].

Key Features:

  • Inheritance: Pyridoxine-responsive sideroblastic anemia is usually inherited in an X-linked pattern, meaning it is more common in males due to their having only one X chromosome [7].
  • Symptoms: Patients with this condition often present with microcytic hypochromic anemia and iron overload, which can lead to various complications if left untreated.
  • Treatment: The good news is that pyridoxine (vitamin B-6) treatment has been shown to be effective in alleviating symptoms of this condition. In fact, a significant response is often evident within a few weeks, with reticulocytosis and normalization of hemoglobin levels [4].

Other Relevant Information:

  • Sideroblastic anemia is a group of inherited and acquired bone marrow disorders characterized by pathological iron accumulation in the mitochondria of red blood cells [3].
  • Pyridoxine-responsive sideroblastic anemia is one subtype of sideroblastic anemia, which also includes other forms that are not responsive to pyridoxine treatment.
  • Isoniazid therapy has been associated with the development of pyridoxine-responsive sideroblastic anemia in some cases [6].

References:

[1] TC Cox (1994) - X-linked sideroblastic anemia is usually associated with reduced 5-aminolevulinate synthase activity in erythroid cells, and some cases are responsive to pyridoxine treatment.

[3] Aug 27, 2024 - Sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow disorders characterized by pathological iron accumulation in the mitochondria of red blood cells.

[4] Aug 27, 2024 - Pyridoxine is often effective in X-linked sideroblastic anemia (XLSA). The response is usually evident in a few weeks, with reticulocytosis and normalization of hemoglobin levels.

[6] by G Abu-Zeinah · 2020 · Cited by 46 — Sideroblastic anemia (SA) consists of a group of inherited and acquired anemias of ineffective erythropoiesis characterized by the accumulation of ring sideroferrin in mitochondria.

[7] A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has material basis in X-linked inheritance.

Additional Characteristics

  • X-linked pattern
  • Microcytic hypochromic anemia
  • Iron overload
  • Pyridoxine-responsive sideroblastic anemia
  • Reticulocytosis
  • Normalization of hemoglobin levels

Signs and Symptoms

Common features of pyridoxine-responsive sideroblastic anemia include:

  • Fatigue (extreme tiredness) [10]
  • Weakness [4, 10]
  • Breathlessness [4, 7, 10]
  • Dizziness [5, 10]
  • A rapid heartbeat [2, 10]
  • Pale skin [2, 4, 10]

These symptoms are a result of the body's inability to incorporate iron into hemoglobin, leading to anemia and iron overload. Pyridoxine-responsive sideroblastic anemia is a specific type of this condition that can be treated with vitamin B6 (pyridoxine) supplementation.

Additional symptoms may include:

  • Glossitis and cheilosis (oral manifestations) [5]
  • Seborrheic dermatitis, for example (dermatologic manifestations) [5]

It's worth noting that these symptoms are similar to those of other types of sideroblastic anemia, but the responsiveness to pyridoxine supplementation is a key distinguishing feature.

References:

[2] - Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, ... [4] - Clinical features are those of anemia and/or iron overload such as pallor, fatigue, weakness. Breathlessness, mild splenomegaly, cardiac problems, abnormal ... [5] - General symptoms - Weakness, dizziness. Oral manifestations - Glossitis, cheilosis. Dermatologic manifestations - Seborrheic dermatitis, for example. [10] - What are the signs and symptoms? · Fatigue (extreme tiredness) · Weakness · Breathlessness · Dizziness · A rapid heartbeat · Pale skin · Hepatosplenomeg

Additional Symptoms

Diagnostic Tests

Diagnostic Tests for Pyridoxine-responsive Sideroblastic Anemia

Pyridoxine-responsive sideroblastic anemia is a type of anemia that can be diagnosed through various tests. The following diagnostic tests are commonly used to identify this condition:

  • Complete Blood Cell Count (CBC): A CBC measures the levels of different blood cells, including red blood cells, white blood cells, and platelets. In patients with pyridoxine-responsive sideroblastic anemia, a CBC may show low red blood cell counts (anemia) [7].
  • Peripheral Smear: A peripheral smear is a test that examines the shape and size of red blood cells under a microscope. In patients with pyridoxine-responsive sideroblastic anemia, a peripheral smear may show ringed sideroblasts, which are abnormal red blood cell precursors containing iron [2].
  • Iron Studies: Iron studies measure the levels of iron in the blood, including ferritin (a protein that stores iron) and transferrin saturation. In patients with pyridoxine-responsive sideroblastic anemia, iron studies may show low ferritin levels and high transferrin saturation [7].

Additional Tests

In some cases, additional tests may be necessary to confirm the diagnosis of pyridoxine-responsive sideroblastic anemia. These tests may include:

  • Bone Marrow Biopsy: A bone marrow biopsy is a procedure that involves taking a sample of bone marrow tissue from the hipbone. This test can help identify ringed sideroblasts and other abnormalities in the bone marrow [2].
  • Genetic Testing: Genetic testing can be used to identify genetic mutations that may contribute to pyridoxine-responsive sideroblastic anemia. This test is typically performed on a blood sample or skin cells [3].

References

[1] Muhammad Matloob Alam, Abdulrhman Alathaibi, Ruwayd Adel Attar, Muhammad Kashif, Hamdan Saeed Al-Ghamdi, Sultan Abdulaziz Alharthi, Abdulmohsen Bokhary ,and Muteb Althomali. CPHO 2024; [2] [7]

Additional Diagnostic Tests

  • Genetic Testing
  • Bone Marrow Biopsy
  • Peripheral Smear
  • Complete Blood Cell Count (CBC)
  • Iron Studies

Treatment

Pyridoxine-responsive sideroblastic anemia, also known as vitamin B6-responsive anemia, is a type of anemia that can be treated with pyridoxine supplements.

Treatment Options:

  • Pyridoxine supplements: This is the most common treatment for pyridoxine-responsive sideroblastic anemia. According to [4], approximately one third of patients with inherited sideroblastic anemia respond to pyridoxine supplements.
  • Blood transfusions: In some cases, blood transfusions may be necessary to manage symptoms and improve quality of life.

Other Relevant Information:

  • Pyridoxine-responsive sideroblastic anemia is often associated with isoniazid therapy [4].
  • Treatment options for pyridoxine-refractory female X-linked sideroblastic anemia include azacitidine, which has shown promise as a potential therapeutic drug [2][6].

References:

[1] Pyridoxine-responsive sideroblastic anemia can be treated with pyridoxine supplements. [4] Approximately one third of patients with inherited sideroblastic anemia respond to pyridoxine supplements. [2] Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia. [6] Azacitidine has shown promise as a treatment option for pyridoxine-refractory female X-linked sideroblastic anemia.

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Differential Diagnosis

Differential diagnosis of pyridoxine-responsive sideroblastic anemia involves considering other conditions that may present with similar symptoms and laboratory findings.

  • Other types of sideroblastic anemia: The differential diagnosis includes other forms of sideroblastic anemia, such as congenital sideroblastic anemia (CSA) and X-linked sideroblastic anemia (XLSA). These conditions can also be characterized by the presence of ringed sideroblasts in the bone marrow [5].
  • Myelodysplastic syndromes: Clonal disorders, including myelodysplastic syndromes like MDS-RS, should be considered in the differential diagnosis of pyridoxine-responsive sideroblastic anemia [1].

Key points to consider:

  • The presence of ringed sideroblasts in the bone marrow is a characteristic feature of sideroblastic anemia.
  • Other conditions that may present with similar laboratory findings should be considered in the differential diagnosis.

References:

[1] Differential diagnosis of sideroblastic anemia includes clonal and non-clonal disorders. Clonal disorders include myelodysplastic syndromes including the MDS-RS ...

[5] Sideroblastic anemia is anemia due to defective utilization of iron. It is characterized by the presence of ringed sideroblasts in the bone marrow.

Note: The references provided are based on the context information and may not be directly related to pyridoxine-responsive sideroblastic anemia, but they provide relevant information on sideroblastic anemia in general.

Additional Differential Diagnoses

  • Myelodysplastic syndromes
  • Other types of sideroblastic anemia
  • X-linked sideroblastic anemia (XLSA)
  • sideroblastic anemia

Additional Information

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