Which of the following is a congenital nonspherocytic hemolytic anemia in which there are red cell inclusions when blood smears are stained with Prussian blue?
The congenital nonspherocytic hemolytic anemia that is characterized by red cell inclusions when stained with Prussian blue is known as Hereditary Sideroblastic Anemia (HSA)
The congenital nonspherocytic hemolytic anemia that is characterized by red cell inclusions when stained with Prussian blue is known as Hereditary Sideroblastic Anemia (HSA).
Sideroblastic anemias are a group of inherited or acquired disorders characterized by the abnormal production of hemoglobin, the oxygen-carrying protein in red blood cells. In HSA, there is a defect in the synthesis of heme, which is a component of hemoglobin. This defect leads to the accumulation of iron in the mitochondria of the red blood cell precursors, resulting in the presence of iron granules visible as inclusions when stained with Prussian blue.
The condition is referred to as “nonspherocytic” because unlike other types of congenital hemolytic anemias, there is no abnormal spherical shape of the red blood cells. HSA can be inherited as an X-linked recessive trait or through autosomal recessive inheritance.
Signs and symptoms of HSA may include fatigue, pale skin, shortness of breath, increased heart rate, and enlarged spleen. The severity of the anemia can vary, with some individuals requiring lifelong blood transfusion support.
Diagnosis of HSA involves a complete blood count (CBC), which typically reveals low hemoglobin and red blood cell counts. Blood smears stained with Prussian blue will show the presence of iron granules in the red cell precursors. Genetic testing can confirm the diagnosis and identify the specific genetic mutation responsible for the condition.
Treatment for HSA aims to manage the symptoms and complications of the anemia. This may include regular blood transfusions, iron-chelating therapy to remove excess iron, and supportive measures such as folic acid supplementation. In some cases, hematopoietic stem cell transplantation may be considered as a potential curative option.
It is important for individuals with HSA to receive regular medical follow-ups to monitor their hemoglobin levels, iron status, and overall well-being. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and the risk of passing on the condition to future generations.
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