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Familial genotypic and phenotypic heterogeneity and its implications on genetic counseling exemplified in two cases of hereditary pyropoikilocytosis/erythrocytic spectrin-linked hemolytic anemia masquerading as congenital dyserythropoietic anemia. 2021

Manu Jamwal, and Anu Aggarwal, and Prashant Sharma, and Deepak Bansal, and Amita Trehan, and Man Updesh Singh Sachdeva, and Shano Naseem, and Arindam Maitra, and Reena Das
Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

UI MeSH Term Description Entries
D004612 Elliptocytosis, Hereditary An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape. Ovalocytosis, Hereditary,Elliptocytoses, Hereditary,Hereditary Elliptocytoses,Hereditary Elliptocytosis,Hereditary Ovalocytoses,Hereditary Ovalocytosis,Ovalocytoses, Hereditary
D005817 Genetic Counseling An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000742 Anemia, Dyserythropoietic, Congenital A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test. Dyserythropoietic Anemia, Congenital,HEMPAS,Anemia With Multinucleated Erythroblasts,Anemia, Congenital Dyserythropoietic,Anemia, Congenital Dyserythropoietic, Type II,Anemia, Dyserythropoietic Congenital, Type I,Anemia, Dyserythropoietic Congenital, Type II,Anemia, Dyserythropoietic Congenital, Type III,Anemia, Dyserythropoietic, Congenital Type 1,Anemia, Dyserythropoietic, Congenital Type 2,Anemia, Dyserythropoietic, Congenital, Type I,Anemia, Dyserythropoietic, Congenital, Type II,Anemia, Dyserythropoietic, Congenital, Type III,Congenital Dyserythropoietic Anemia,Congenital Dyserythropoietic Anemia Type 1,Congenital Dyserythropoietic Anemia Type II,Congenital Dyserythropoietic Anemia, Type I,Congenital Dyserythropoietic Anemia, Type III,Dyserythropoietic Anemia, Congenital Type 1,Dyserythropoietic Anemia, Congenital Type 2,Dyserythropoietic Anemia, Congenital, Type I,Dyserythropoietic Anemia, Congenital, Type II,Dyserythropoietic Anemia, Congenital, Type III,Dyserythropoietic Anemia, HEMPAS Type,HEMPAS Anemia,Hereditary Erythroblast Multinuclearity with Positive Acidified Serum,Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test,Type I Congenital Dyserythropoietic Anemia,Anemias, Congenital Dyserythropoietic,Congenital Dyserythropoietic Anemias,Dyserythropoietic Anemias, Congenital,HEMPAS Anemias
D000745 Anemia, Hemolytic, Congenital Hemolytic anemia due to various intrinsic defects of the erythrocyte. Anemia, Hemolytic, Hereditary,Congenital Hemolytic Anemia,Hemolytic Anemia, Congenital,Hemolytic Anemia, Hereditary,Hereditary Hemolytic Anemia,Anemia, Congenital Hemolytic,Anemia, Hereditary Hemolytic,Anemias, Congenital Hemolytic,Anemias, Hereditary Hemolytic,Congenital Hemolytic Anemias,Hemolytic Anemias, Congenital,Hemolytic Anemias, Hereditary,Hereditary Hemolytic Anemias
D013049 Spectrin A high molecular weight (220-250 kDa) water-soluble protein which can be extracted from erythrocyte ghosts in low ionic strength buffers. The protein contains no lipids or carbohydrates, is the predominant species of peripheral erythrocyte membrane proteins, and exists as a fibrous coating on the inner, cytoplasmic surface of the membrane. alpha-Spectrin,beta-Spectrin,alpha Spectrin,beta Spectrin

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