blood Thrombocytopenia Articles

Sep 26, 2019
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A 7-year-old boy of Pakistani origin was referred for thrombocytopenia and possible IgA deficiency. His medical history was significant for frequent upper respiratory tract infections and otitis media. There was no history of epistaxis, oropharyngeal bleeding, petechiae, bruising, or other bleeding problems. Physical examination was normal with no evidence of hepatosplenomegaly. Laboratory evaluation revealed hemoglobin 129 g/L, white blood cell count 7.4 � 109/L, and platelet count 58 � 109/L. There was no family history of thrombocytopenia or bleeding; both parents (unrelated) and a sibling had normal platelet counts. Peripheral blood film examination (see figure) revealed large pale platelets, suggesting a diagnosis of gray platelet syndrome, which was confirmed by electron microscopy. Next-generation sequencing of platelet RNA demonstrated intron retention in NBEAL2 transcripts. Genomic DNA sequencing confirmed compound heterozygous mutation of NBEAL2.

A 35-year-old woman with known May-Hegglin anomaly (and a positive family history) was seen in a fertility clinic. She was found to have marked thrombocytopenia (16 � 109/L). The other cell counts were normal. Other than hypothyroidism that was controlled with levothyroxine, she was otherwise healthy with no evidence of bleeding. The peripheral blood film demonstrated the features of May-Hegglin with megathrombocytes (open arrows) and neutrophils with prominent D�hle-like bodies (neutrophil and inset, solid black arrows). The actual platelet count was underestimated by the automated counter because of the abnormally large platelets. The peripheral smear suggested that the platelet count was higher and a more accurate calculation showed the platelet count to be 56 � 109/L.

A giant platelet is seen in the middle of the microscopic field. This platelet is as large or larger than many of the red cells surrounding it. Such cells are seen in myeloproliferative neoplasms or disorders associated with increased platelet destruction.

A typical megakaryocyte is seen with platelets budding off the periphery. The granular cytoplasm fragments from separate demarcation regions resulting in the formation of platelets.

This picture demonstrates petechiae in dependent areas of a thrombocytopenic patient with AML. These non-blanching macular lesions represent small, cutaneous hemorrhages.

Spicules are empty and generally devoid of hematopoietic elements.

Megakaryocytes are markedly increased in the bone marrow aspirate of a patient with ITP.

Review of the peripheral smear reveals a paucity of platelets.


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Sep 26, 2019
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