Congenital disorders of bone and blood

High platelet count is associated with low bone mineral density: The MrOS Sweden cohort

“…This is associated with anemia and sometimes pancytopenia. The only cure is with an allogeneic stem cell transplantation [42]. A recent meta-analysis performed by Steer et al reported that hematopoietic disorders, due to increased marrow cell proliferation, are associated with significant deterioration of bone health, independently of the affected cell line [43].…”

“…A recent meta-analysis performed by Steer et al reported that hematopoietic disorders, due to increased marrow cell proliferation, are associated with significant deterioration of bone health, independently of the affected cell line [43]. The association between blood and bone health is even seen in non-proliferative hematopoietic diseases, such as Diamond-Blackfan anemia, which is categorized by anemia, osteopenia, and various bone anomalies [42].…”

Increased Risk of Hip Fracture in Patients with Lymphoma, a Swedish Population Study of 37,236 Lymphoma Patients

“…Increased proliferation of hematopoietic cells in the bone marrow has been associated with lower bone density in patients with hematological diseases (70). The association between blood and bone is even seen in non-proliferative hematological diseases, such as Diamond-Blackfan anemia and Fanconi anemia (117). These are congenital diseases associated with anemia and pancytopenia as well as osteopenia and bone defects.…”

Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis

“…Autosomal recessive osteopetrosis (ARO) is a rare and heterogeneous genetic disease, caused by defects in the differentiation or resorption activity of osteoclasts. Patients present with dense and brittle bones, severe anemia, hepatosplenomegaly, macrocephaly, progressive deafness and blindness due to pressure on nerves, and limited bone marrow (BM) cavities 1,2 . The incidence of the disease is 1 in 250 000 live births, with higher rates in specific geographic areas where consanguineous marriages are frequent 3 .…”

“…Patients present with dense and brittle bones, severe anemia, hepatosplenomegaly, macrocephaly, progressive deafness and blindness due to pressure on nerves, and limited bone marrow (BM) cavities. 1 , 2 The incidence of the disease is 1 in 250,000 live births, with higher rates in specific geographic areas where consanguineous marriages are frequent. 3 More than 50% of the cases are due to defects in the TCIRG1 gene, encoding for the a3 subunit of ATPase H + transporting V0 complex, necessary for the acidification of organelles and resorption lacuna.…”