Table 4 Hematological rare diseases
From: Bone fragility in patients affected by congenital diseases non skeletal in origin
Disease | OMIM phenotype number | OMIM gene/locus number | Gene | Chromosome location | Bone phenotype (specific signs and symptoms) | Bone biochemical markers |
|---|---|---|---|---|---|---|
Mastocytosis | 154800 | 164920 | KIT | 4q12 | Osteopenia, osteoporosis with/without fractures osteolytic or osteosclerotic bone lesions due to mast cell infiltration, primarily affecting the axial skeleton and ends of the long bone | High serum BSAP and urine DPD |
Beta-thalassemia major | 613985 | 141900 | HBB | 11p15.4 | Osteopenia and osteoporosis with/or without fractures | Low PTH and  25(OH)D3 High serum IL-1α, TNF-α and IL-6 Low serum OCN |
Hemophilia Type A | 306700 | 300841 | F | Xq28 | Osteoporosis | High serum P1NP |
Hemophilia Type B | 306900 | 300746 | F9 | Xq27.1 | Osteoporosis | High serum P1NP |
Sickle cell disease | 603903 | 141900 | HBB | 11p15.4 | Avascular joint necrosis; Joint and leg pain; osteopenia/osteoporosis | Low serum calcium and high serum phosphate, High serum BSAP |
Ghosal hemato-diaphyseal dysplasia | 231095 | 274180 | TBXAS1 | 7q34 | Increased bone density; diaphyseal dysplasia; thick long bones of the extremities; wide diaphyseal medullary cavities; cortical hyperostosis Variable phenotype; most patients present in infancy with anemia | NR |
Severe congenital neutropenia 1 | 202700 | 130130 | ELANE | 19p13.3 | Osteopenia/osteoporosis | NR |
Severe congenital neutropenia 2 | 613107 | 600871 | GFI1 | 1q22.1 | Osteopenia/osteoporosis | NR |
Severe congenital neutropenia 3 | 610738 | 605998 | HAX1 | 1q21.3 | Osteopenia/osteoporosis | NR |
Severe congenital neutropenia 4 | 612541 | 611045 | G6PC3 | 17q21.31 | Osteopenia/osteoporosis; poor growth; pectus carinatum; proximal localization of thumb; broad thumbs | NR |
Severe congenital neutropenia 5 | 615285 | 610035 | VPS45A | 1q21.2 | Osteopenia / osteoporosis | NR |
Severe congenital neutropenia 6 | 616022 | 616012 | JAGN1 | 3p25.3 | Short stature; osteopenia / osteoporosis | NR |
Severe congenital neutropenia 7 | 617014 | 138971 | CSF3R | 1p34.3 | Osteopenia/osteoporosis | NR |
Severe congenital neutropenia x-linked | 300299 | 300392 | WAS | Xp11.23 | Osteopenia/osteoporosis | NR |
Histiocytosis | Â | Â | Â | Â | Â | Â |
Langerhans cell histiocytosis (X-Histiocytosis | Â | Â | Â | Â | Lytic bone lesions at skull, but any bone may be involved, painless or painful, and possible associated soft-tissue mass. | NR |
Non-Langerhans cell histiocytosis (Erdheum-Chester Disease) | Â | Â | Â | Â | Osteosclerosis of the long bones, bone pain, (mainly affecting the distal lower limbs). | NR |