Neeraj Garg, a resident of Gwalior, told ANI on Sunday that he had lost his daughter, Deepa, due to medical negligence of the hospital, who had claimed to cure her of Congenital dyserythropoietic anemia
type 2 (CDA II).
March 20, 2017 -- Using a technique that skips high-dose chemotherapy and radiation prior to a stem cell transplant, physicians report the first cure of an adult patient with congenital dyserythropoietic anemia (CDA), a rare blood disorder.
Non-myeloablative allogeneic stem cell transplant with post-transplant cyclophosphamide cures the first adult patient with congenital dyserythropoietic anemia," Bone Marrow Transplantation, 2017.
Congenital dyserythropoietic anemia
with karyorrhexis and multinuclearity of erythroblasts.
Piebaldism may be associated with other disorders such as Hirschsprung disease, neurofibromatosis type I, congenital dyserythropoietic anemia
type II, Diamond-Blackfan anemia, Grover disease, or transient acantholytic disease .
Die facility's goal is to develop and maintain standardized iPSCs lines specific to a variety of rare inherited diseases--not only DBA and JMML, but also dyskeratosis congenita, congenital dyserythropoietic anemia
, thrombocytopenia absent radii (TAR), Glanzmarm's thrombasthenia and Hermansky--Pudlak syndrome.
In congenital iron-loading anemias, such as [beta]-thalassemia (major and intermedia) and congenital dyserythropoietic anemia
I and II, but also in acquired forms such as myelodys-plastic syndrome types RA (refractory anemia) and RARS (RA with ringed sideroblasts), the diseased erythron dysregulates iron homeostasis by inhibiting hepcidin synthesis, even in the presence of iron overload (134-140).
Similar dysplastic changes in the erythroid series can be seen in the bone marrow of individuals with congenital dyserythropoietic anemia
Nine of their 24 patients with low holo-TC (38%) had normal cobalamin status, as determined with the sensitive deoxyuridine suppression test; the diagnoses in the 9 included myelodysplasia, congenital dyserythropoietic anemia
, and alcohol abuse.
Hereditary erythroblastic multinuclearity with a positive acidified serum test (HEMPAS) (41), also called congenital dyserythropoietic anemia
type II (42, 43), is a rare autosomal recessive disorder caused by membrane abnormality, with >300 known patients, and is a multifactorial disease.
Differential diagnosis is usually straightforward but may include genetic sideroblastic anemias, congenital dyserythropoietic anemias
, and other conditions with high levels of HbF (such as juvenile myelomonocytic leukemia and aplastic anemia).