autosomal recessive pyridoxine-refractory sideroblastic anemia 3

Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3 (ARS3) is a rare genetic disorder characterized by the impaired production of normal red blood cells in the bone marrow. This condition is inherited in an autosomal recessive pattern, meaning that affected individuals are born with two copies of the mutated gene, one from each parent.

Key Features:

• Onset: Symptoms typically appear in adulthood.
• Systemic Iron Overload: Affected individuals show signs of systemic iron overload, which can lead to various complications if left untreated.
• Iron Chelation Therapy: Iron chelation therapy may be beneficial in managing the condition.

Genetic Heterogeneity:

• The disorder is caused by mutations in the GLRX5 gene on chromosome 14q32.
• Biallelic germline mutations in SLC25A38 have also been shown to cause autosomal recessive pyridoxine-refractory sideroblastic anemia.

Clinical Presentation:

• Abnormal red blood cells called sideroblasts are found in the blood and bone marrow.
• The iron inside these abnormal red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron.

References:

• Liu et al., 2014 (summary by) - [1][2]
• SIDBA1 (300751) - [3]
• SLC25A38 gene mutations - [12]

Autosomal recessive pyridoxine-refractory sideroblastic anemia 3 (also known as Sideroblastic Anemia-3) is a rare genetic disorder. According to the available information, individuals affected by this condition may exhibit the following signs and symptoms:

• Severe anemia: This is one of the primary features of Sideroblastic Anemia-3, leading to pallor, fatigue, weakness, breathlessness, and other typical anemia-related symptoms [4].
• Onset in adulthood: Unlike some other forms of sideroblastic anemia, Sideroblastic Anemia-3 typically presents with its first symptoms in adulthood, rather than infancy or early childhood [6][9].
• Additional complications: As a result of the underlying condition and associated anemia, individuals may experience various complications such as bleeding, high-output heart failure, significant fatigue, and weight loss [7].

It's worth noting that Sideroblastic Anemia-3 is a rare disorder, and more research is needed to fully understand its manifestations. However, based on available information, these symptoms appear to be associated with this condition.

References: [4] - Aug 27, 2024 — The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow disorders characterized by pathological iron accumulation ... [6] - Sideroblastic anemia-3 is an autosomal recessive hematologic disorder characterized by onset of anemia in adulthood. [7] - Aug 27, 2024 — Any complication of anemia in general, such as bleeding, high-output heart failure, significant fatigue, and weight loss, may be seen in sideroblastic anemias. [9] - Sideroblastic anemia-3 is an autosomal recessive hematologic disorder characterized by onset of anemia in adulthood. Affected individuals show signs of ...

Autosomal recessive pyridoxine-refractory sideroblastic anemia 3 is a rare hematologic disorder characterized by the onset of anemia in adulthood. The diagnostic tests for this condition may include:

• Complete Blood Cell Count (CBC): This test measures the levels of different blood cells, including red blood cells, white blood cells, and platelets. It can help identify anemia and other abnormalities in the blood [3].
• Peripheral Smear: A peripheral smear is a blood test that examines the shape and size of red blood cells under a microscope. It can help diagnose sideroblastic anemia by showing ringed sideroblasts, which are abnormal red blood cells with iron deposits [5].
• Iron Studies: Iron studies measure the levels of iron in the blood, including ferritin, transferrin saturation, and serum iron. These tests can help confirm the diagnosis of sideroblastic anemia by showing increased iron levels and decreased transferrin saturation [3].
• Bone Marrow Examination: A bone marrow examination with Prussian blue stain is a key diagnostic test for sideroblastic anemia. It shows the presence of ringed sideroblasts, which are abnormal red blood cells with iron deposits [5].

It's worth noting that the diagnosis of autosomal recessive pyridoxine-refractory sideroblastic anemia 3 may also involve genetic testing to confirm the presence of a specific mutation in the SLC25A38 gene. However, this information is not available for this condition [8].

Based on the search results, it appears that there are limited treatment options for autosomal recessive pyridoxine-refractory sideroblastic anemia.

• Chloroquine: One potential treatment option is chloroquine, which has been successfully used to treat pyridoxine-resistant sideroblastic anemia in some cases [2].
• Supportive care: However, the mainstay of therapy for most severe sideroblastic anemias remains supportive care, consisting primarily of blood transfusions to maintain an acceptable hemeoglobin level [7][9].

It's worth noting that there is limited information available on the treatment of autosomal recessive pyridoxine-refractory sideroblastic anemia, and further research may be needed to determine effective treatment options.

References: [2] - Chloroquine has been successfully used to treat pyridoxine-resistant sideroblastic anemia, but no large study has been done, and thus only ... [7] - The mainstay of therapy for most severe sideroblastic anemias remains RBC transfusions. Because of the risks of long-term transfusion therapy, treatment should ... [9] - The treatment of sideroblastic anemia is largely supportive, consisting primarily of blood transfusions to maintain an acceptable hemeoglobin level. A trial of ...

Differential Diagnosis of Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3

Autosomal recessive pyridoxine-refractory sideroblastic anemia 3 (ARS3) is a rare form of congenital sideroblastic anemia. The differential diagnosis for ARS3 includes other types of sideroblastic anemia, as well as non-clonal disorders.

• Other forms of sideroblastic anemia: The differential diagnosis for ARS3 includes other forms of sideroblastic anemia, such as X-linked sideroblastic anemia (XLSA) [1]. These conditions share similar clinical and laboratory features.
• Non-clonal disorders: Clonal disorders, including myelodysplastic syndromes, can also be considered in the differential diagnosis for ARS3 [2].
• Other rare genetic disorders: Rare genetic disorders, such as those affecting the glutaredoxin-5 (GLRX5) gene, can also present with similar clinical features to ARS3 [4].

Key Features of Differential Diagnosis

• Laboratory findings: The diagnosis of ARS3 is primarily based on laboratory findings, including bone marrow examination and Prussian blue stain [3].
• Clinical presentation: Affected individuals may present with signs of anemia, such as fatigue and weakness.
• Genetic testing: Genetic testing can help confirm the diagnosis of ARS3 and distinguish it from other forms of sideroblastic anemia.

References

[1] Context result 1: Sideroblastic anemia includes other types of sideroblastic anemia and particularly bears resemblance with X-linked sideroblastic anemia (XLSA).

[2] Context result 2: Differential diagnosis of sideroblastic anemia includes clonal and non-clonal disorders.

[3] Context result 7: Sideroblastic anemia is primarily a laboratory diagnosis, made on the basis of bone marrow examination with Prussian blue stain showing the presence of ringed sideroblasts.

[4] Context result 4: A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single family.