Rare disorder: Chromosome 5q deletion syndrome?
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Chromosome 5q deletion syndrome is a rare and acquired hematological disorder that results from the loss of part of the long arm which is known as q arm (band) 5q33.1 of human chromosome 5 in the bone marrow. This chromosome abnormality is most commonly associated with myelodysplastic syndrome (MDS).
This syndrome affects bone marrow cells causing treatment-resistant anemia and myelodysplastic syndromes that may lead to acute myelogenous leukemia. Bone marrow examination shows changes in the megakaryocytes. Megakaryocytes become more numerous than usual, small and mononuclear. Additionally, erythroid hypoplasia may appear in the bone marrow.
Chromosome 5q deletion syndrome could be treated through
- Lenalidomide
- Red blood cell (RBC) transfusion-dependent anemia
- Iron chelation to treat iron overload that will result from repetitive blood transfusion (when serum ferrite > 1000, or when patient get between 10 to 20 blood transfusion).
