The definition of AML with CEBPA mutation has changed to include biallelic (biCEBPA) as well as single mutations located in the basic leucine zipper (bZIP) region of the gene (smbZIP-CEBPA). The favourable prognosis associated with smbZIP-CEBPA has been demonstrated in cohorts of children and...
(MDS).1 It is to be recalled that the traditional definition of 'the 5qÀ syndrome' stipulated a phenotype characterized by macrocytic anemia, erythroid hypoplasia, normal or elevated platelet count, hypolobulated megakaryocytes and isolated del(5q).2 However, not all cases of del(5q)-...
also known as colony-stimulating factor 35.CSF3Rmutations appear to be specific to WHO-defined CNL6. Diagnosis of CNL requires exclusion other causes of neutrophilia, including
and MDS/MPN that arise in individuals with genetic conditions associated with increased risk of myeloid malignancies. Myeloid neoplasms arising in individuals with Fanconi anemia, Down syndrome, and RASopathies are discussed in separate dedicated sections. These diseases are now classified using a formul...
The issue of excluding eclamptics whose fits occur after 24 h of delivery might not be as controversial as labeling patients with hemoglobin of <90 g/L with severe anemia. Certainly there are many elegant studies that do not support that definition of severity at least for African mothers. ...
Classification of myelodysplastic syndrome (MDS) : The WHO classified MDS as a reduction in bone marrow primary cells from the FAB 30% to 20%; Refine the definition of low risk type RA and RARS; New refractory blood cells decreased with more abnormal hyperplasia (RCMD) subtype, RA and RAR...
Sickle cell anemia is a recessive trait. a cross between two hetero-zygotes would produce what phenotype ratio? A woman with type b blood has a child with blood type o. What are the genotypes of the mother and child? What genotype ...
Over time, the damage to the small intestine can lead to malabsorption of nutrients, resulting in a range of health conditions, including bone loss and anemia.2 For people with celiac disease, following a gluten-free diet typically resolves symptoms and can help protect the small intestine long...
Based on our results, a new algorithm is proposed for a better diagnostic definition and prognostic classification of mastocytosis, as confirmed prospectively in an independent validation series of 117 mastocytosis patients. Modern Pathology (2011) 24, 1157–1168; doi:10.1038/modpathol.2011.84; ...
Learn the definition of the Punnett square and how it's used to determine the potential genotype and phenotype of offspring. View Punnett square examples to aid understanding. Related to this Question A woman with sickle cell ane...