A Case Report of Congenital Non-spherocytic Hemolytic Anemia in a Patient from India
| Autor: | Kamleshun Ramphul, Ruhi Sonaye, Shaheen Sombans |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Hemolytic anemia
Spherocytosis congenital non-spherocytic hemolytic anemia 030204 cardiovascular system & hematology 03 medical and health sciences 0302 clinical medicine Pyrimidine-5'-Nucleotidase Deficiency Rheumatology hemic and lymphatic diseases medicine Genetics Internal Medicine pyruvate kinase deficiency homozygous glucose phosphate isomerase deficiency business.industry hexokinase deficiency General Engineering india medicine.disease Glucose phosphate pyrimidine 5’nucleotidase deficiency Hemolysis Red blood cell medicine.anatomical_structure Immunology business Congenital hemolytic anemia 030217 neurology & neurosurgery Pyruvate kinase deficiency |
| Zdroj: | Cureus |
| ISSN: | 2168-8184 |
| Popis: | Congenital non-spherocytic hemolytic anemia (CNSHA) is a rare autosomal recessive condition that presents as a congenital hemolytic anemia. The absence of vital enzymes required for glycolysis such as homozygous glucose phosphate isomerase (GPI) and red blood cell (RBC) nucleotide metabolism predisposes the RBCs to hemolysis. No spherocytosis is seen on peripheral smear as well as no signs of immune-mediated destruction of RBCs. We present a rare case of a previously healthy 21-year-old female patient with CNSHA from India. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|