X-linked thrombocytopenia with thalassemia displays bone marrow reticulin fibrosis and enhanced angiogenesis: comparisons with primary myelofibrosis

Åström, Maria,1959-Örebro universitet,Institutionen för hälsovetenskap och medicin (author)

X-linked thrombocytopenia with thalassemia displays bone marrow reticulin fibrosis and enhanced angiogenesis : comparisons with primary myelofibrosis

Funding Agencies:Örebro County Council Research Committee OLL-158661 OLL-164431 OLL-239301 OLL-268261Lions Cancer Research FoundationSwedish Society of HematologyAlexion
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.

Hahn-Strömberg, Victoria,1971-Örebro universitet,Institutionen för hälsovetenskap och medicin(Swepub:oru)vhg (author)
Zetterberg, EvaDepartments of Medicine and Hematology, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden (author)
Vedin, IngerKarolinska Institutet (author)
Merup, MatsDepartments of Medicine and Hematology, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden (author)
Palmblad, JanKarolinska Institutet (author)
Örebro universitetInstitutionen för hälsovetenskap och medicin (creator_code:org_t)

By the author/editor: Åström, Maria, 1 ...; Hahn-Strömberg, ...; Zetterberg, Eva; Vedin, Inger; Merup, Mats; Palmblad, Jan

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Hematology

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