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Bone Marrow Failure
Bone Marrow Failure
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Bone Marrow Failure
Others
Scwachman – Diamond Syndrome Amegakaryocytic Thrombocytopenia
Autosomal recessive disorder Autosomal recessive disorder
Mutated SBDS gene Biallelic Mutations
(Scwachman Bodian Diamond Syndr.) Thrombopoietin receptor
MPL
Pancytopenia Single Cytopenia
Congenital Congenital
Exocrine Pancreatic Insufficien cy &
BM Failure
Cartilage, Hair Hypoplasia occur
(Short stature, Dysostosis)
jslum.com | Medicine
Short Stature
Microcephaly
Microphtalmia
Epicanthal folds
Dangling thumbs Abnormal Thumbs Hyperpigmented
Site of Ureter area
reimplantation Treatment
Congenital Dislocated Hips Hematopoietic Stem Cell Transplantation
Rocker Bottom Feet (1st line therapy) Diamond-Bla ckfan Anaemia
Androgen Hb – 46g/L
(used when Transplantation is not an option) MCV – 124 fl
Preimplantation Genetic Diagnosis (PGD) –
For HLA matching to give rise to a sibling
(free of the disease) & d onate for the sick
child