文档介绍：Aplastic Anemia and PNH
Patient Information
■ 17 year old male
■ Fatigue
■ Sore throat
■ Bleeding gums
■ Petechial ra(EPO and G-CSF)
Fanconi's Anemia
Signs & Symptoms
■ Sx of anemia: fatigue, weakness, pallor etc
■ BM failure: Pancytopenia
■ May have congenital malformations: microcephaly, skin pigmentations, short height, malformed thumbs, crossed eyes, mental retardation and various others characteristics.
■ Developmental problems: low birth weight, poor appetite etc
Diagnosis
■ Often found in childhood, a complete medical history is important, because it is an inherited disorder
Lab Findings
■ Peripheral Blood
Similar to AA, the pancytopenia is seen at 5-10 years of age,
HbF is elevated, which results in a decrease in HbA
Osmotic fragility is increased
Chromosomal instability is common
■ Bone Marrow Aspirate
Hypocellularity, with a decrease in myeloid and erythroid precursors as well as decreased meg's.
Dyserythropoiesis (multinuclearity, ringed sideroblasts), dysmyelopoiesis (hyposegmentation), and abnormal megakaryocytes.
Genetic Testing
■ Chromosome breakage test: diepoxybutane (DEB) or mitomycin C (MMC) is added to the sample, this increases the number of breaks, gaps and rearrangement of the chromosomes in FA
Imaging
■ View the skeletal system to identify abnormalities
■ Cardiac ultrasonography
Myelodysplastic Syndrome
■ MDS: consists of hyper or hypo cellular
BM, impaired morphology and maturation,
and peripheral blood cytopenia.
■ Primary MDS: Idiopathic
■ Secondary: caused by chemotherapeutic agents such as radiation, alkylating agents or topoisomerase 2 inhibitors
■ The stem cells are damaged then the mutated clone fills the BM, suppressing the healthy stem cells.
■ This condition often develops into AML (like FA)
Classifications of MDS
MDS can be classified into different categories depending on the cells present in the peripheral blood and BM.
■ Refractory Anemia
■ RA with ringed sideroblasts
■ RA with excess blasts
■ Chronic myelomono