§ Inherited aplastic anemia syndromes
Aplastic anemia (AA) is a life-threatening form of bone marrow failure which, if untreated, is associated with very high mortality. AA refers to pancytopenia in association with bone marrow hypoplasia/aplasia, most often due to immune injury to multipotent hematopoietic stem cells. The term “aplastic anemia” is a misnomer because the disorder is characterized by pancytopenia rather than anemia alone. The four major inherited causes for AA in children are:
●Fanconi anemia (FA)
●Dyskeratosis congenita (DC)
●Shwachman-Diamond syndrome (SDS)
●Congenital amegakaryocytic thrombocytopenia (CAMT)
Lab tests:
CBC and Automated Differential
Blood Smear with Interpretation
Bone marrow aspiration and biopsy
Serum B12 vitamin
Erythrocyte folate level
Serologic tests for viruses associated with AA
Chromosomal breakage testing with mitomycin c (MMC) or diepoxybutane (DEB) screening for Fanconi anemia
Telomere length measurements for Dyskeratosis congenita
References:
- Alter BP. Inherited Bone Marrow Failure Syndromes. In: Nathan and Oski’s Hematology of Infancy and Childhood, Nathan DG, Orkin SH, Ginsburg D, Look AT (Eds), W.B. Saunders, Philadelphia 2003. p.280.
- Young NS. Acquired aplastic anemia. Ann Intern Med 2002; 136:534.
- Brodsky RA, Jones RJ. Aplastic anaemia. Lancet 2005; 365:1647.
