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A 32 -year-old female patient is seen in the hematology clinic for fol low-up of pre-sumed ITP diagnosed during pregnancy 18 months previously. Complete blood count shows leu kocyte count 7 ,000/ pl. hemoglobin 1 3.8 g/dl, and platelet count LjO,OOO/ pl. She had been treated with predn isone. but did not respond. The peripheral blood smear is shown below.
Further family history is taken; the patient's mother, son, and brother all have platelet counts in the 70,000/ pL to 90,000/ pL range. Which of the following is the most likely diagnosis?
- Gestational thrombocytopenia
- Fanconi anemia
- Immune thrombocytopenia
- May-Hegglin anomaly
Medicine
D. The peripheral blood smear shows large platelets and a leukocyte with a blue inclusion, which is characteristic of May-Hegglin anomaly. May-Hegglin anomaly is one of the four "MYH9-related macrothrombocytopenia disorders;' the other three syndromes being Fechtner, Sebastian, and Epstein. MYH9-related disease is one of the most common types of inherited thrombo-cytopenia. It is an autosomal dominant disorder due to mutations of MYH9, the gene for the heavy chain of nonmuscle myosin IIA. Thrombocytopenia is usually mild and may be due to defects in megakaryocyte maturation and platelet formation. The diagnosis should be suspected when giant platelets are seen on the blood smear and can be confirmed by an immunofluorescence test on the blood film.
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