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Description

Hereditary pure red cell anemia (HPRCA) is a rare, inherited form of anemia that is caused by a genetic mutation. It is characterized by a decrease in the production of red blood cells, resulting in anemia. Symptoms of HPRCA include fatigue, pale skin, shortness of breath, and an enlarged spleen. Treatment typically involves blood transfusions and medications to increase red blood cell production. In some cases, a bone marrow transplant may be necessary.

Synonyms

• Aase-Smith syndrome II
• BDS
• Blackfan-Diamond syndrome
• chronic congenital aregenerative anemia
• congenital aplastic anemia
• congenital erythroid hypoplastic anemia
• congenital pure red cell aplasia
• DBA
• Diamond-Blackfan anemia
• hereditary PRCA
• hereditary pure red cell anemia
• hereditary pure red cell aplasia

Symptoms (patient's findings)

• asthenia
• dizziness
• fatigue
• shortness of breath

Signs (examiner's findings)

• mid systolic heart murmur
• pallor

Basic Lab Tests (measurements)

• serum
  •      iron
• vital signs
  •      blood pressure
  •      systolic blood pressure
  •      pulse
• whole blood
  •      hemoglobin F
  •      basophils
  •      hematocrit
  •      lymphocytes
  •      platelets
  •      target cells
  •      mean corpuscular volume
  •      granulocytes
  •      leukocytes
  •      neutrophils
  •      mean corpuscular hemoglobin concentration
  •      erythrocytes
  •      monocytes
  •      reticulocytes
  •      mean corpuscular hemoglobin
  •      eosinophils
  •      hemoglobin
  •      macrocytes

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: