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X-linked thrombocytopenia with thalassemia displays bone marrow reticulin fibrosis and enhanced angiogenesis: comparisons with primary myelofibrosis
Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.
Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.
Departments of Medicine and Hematology, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden .
Departments of Medicine and Hematology, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden .
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2015 (English)In: American Journal of Hematology, ISSN 0361-8609, E-ISSN 1096-8652, Vol. 90, no 3, E44-E48 p.Article in journal (Refereed) Published
Abstract [en]

X-linked thrombocytopenia with thalassemia (XLTT) is caused by the mutation 216R > Q in exon 4 of the GATA1 gene. Male hemizygous patients display macrothrombocytopenia, splenomegaly, and a β-thalassemia trait. We describe two XLTT families where three males were initially misdiagnosed as having primary myelofibrosis (PMF) and all five investigated males showed mild-moderate bone marrow (BM) reticulin fibrosis. Comparative investigations were performed on blood samples and BM biopsies from males with XLTT, PMF patients and healthy controls. Like PMF, XLTT presented with high BM microvessel density, low GATA1 protein levels in megakaryocytes, and elevated blood CD34+ cell counts. But unlike PMF, the BM microvessel pericyte coverage was low in XLTT, and no collagen fibrosis was found. Further, as evaluated by immunohistochemistry, expressions of the growth factors VEGF, AGGF1, and CTGF were low in XLTT megakaryocytes and microvessels but high in PMF. Thus, although the reticulin fibrosis in XLTT might simulate PMF, opposing stromal and megakaryocyte features may facilitate differential diagnosis. Additional comparisons between these disorders may increase the understanding of mechanisms behind BM fibrosis in relation to pathological megakaryopoiesis.

Place, publisher, year, edition, pages
2015. Vol. 90, no 3, E44-E48 p.
National Category
Hematology
Identifiers
URN: urn:nbn:se:oru:diva-43473DOI: 10.1002/ajh.23907ISI: 000349889300003PubMedID: 25421114Scopus ID: 2-s2.0-84923092920OAI: oai:DiVA.org:oru-43473DiVA: diva2:793996
Note

Funding Agencies:

Örebro County Council Research Committee OLL-158661  OLL-164431  OLL-239301  OLL-268261

Lions Cancer Research Foundation

Swedish Society of Hematology

Alexion

Available from: 2015-03-10 Created: 2015-03-10 Last updated: 2017-10-17Bibliographically approved

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