先天性溶血性貧血
- 関
- hereditary hemolytic anemia
WordNet
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
- relating to or involving or causing hemolysis; "hemolytic anemia" (同)haemolytic
- a deficiency of red blood cells (同)anaemia
- a lack of vitality (同)anaemia
- genus of terrestrial or lithophytic ferns having pinnatifid fronds; chiefly of tropical America (同)genus Anemia
PrepTutorEJDIC
- (病気・身体的欠陥など)生まれつきの,先天的な
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/11/20 08:52:11」(JST)
[Wiki en表示]
Congenital hemolytic anemia |
Classification and external resources |
ICD-10 |
D55-D58 |
ICD-9 |
282 |
MeSH |
D000745 |
Congenital hemolytic anemia (or hereditary hemolytic anemia) refers to hemolytic anemia which is primarily due to congenital disorders.[1]
Types[edit]
Basically classified by causative mechanism, types of congenital hemolytic anemia include:
- Genetic conditions of RBC Membrane
- Hereditary spherocytosis
- Hereditary elliptocytosis
- Genetic conditions of RBC metabolism (enzyme defects). This group is sometimes called congenital nonspherocytic (hemolytic) anemia, which is a term for a congenital hemolytic anemia without spherocytosis, and usually excluding hemoglobin abdormalities as well, but rather encompassing defects of glycolysis in the erythrocyte.[2]
- Glucose-6-phosphate dehydrogenase deficiency (G6PD or favism)
- Pyruvate kinase deficiency
- Hemoglobinopathies[3]/genetic conditions of hemoglobin
- Sickle cell anemia
- Congenital dyserythropoietic anemia
- Thalassemia
See also[edit]
- Hematopoietic ulcer
- List of circulatory system conditions
References[edit]
- ^ Rahman SA, Jamal CY (June 2002). "Congenital hemolytic anemia in Bangladesh: types and clinical manifestations". Indian Pediatr 39 (6): 574–7. PMID 12084953.
- ^ medconditions.net > Hemolytic Congenital, Nonspherocytic Anemia Definition Retrieved April 15, 2011
- ^ Shah A (November 2004). "Hemoglobinopathies and other congenital hemolytic anemia". Indian J Med Sci 58 (11): 490–3. PMID 15567909.
Pathology: hematology, hematologic diseases of RBCs and megakaryocytes / MEP (D50-69,74, 280-287)
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Red
blood cells |
↑ |
|
|
↓ |
Anemia |
Nutritional |
- Micro-: Iron deficiency anemia
- Macro-: Megaloblastic anemia
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Hemolytic
(mostly Normo-) |
Hereditary |
- enzymopathy: G6PD
- glycolysis
- hemoglobinopathy: Thalassemia
- Sickle-cell disease/trait
- HPFH
- membrane: Hereditary spherocytosis
- Minkowski-Chauffard syndrome
- Hereditary elliptocytosis
- Southeast Asian ovalocytosis
- Hereditary stomatocytosis
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Acquired |
- Drug-induced autoimmune
- Drug-induced nonautoimmune
- Hemolytic disease of the newborn
|
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Aplastic
(mostly Normo-) |
- Hereditary: Fanconi anemia
- Diamond–Blackfan anemia
- Acquired: PRCA
- Sideroblastic anemia
- Myelophthisic
|
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Blood tests |
- MCV
- Normocytic
- Microcytic
- Macrocytic
- MCHC
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Other |
- Methemoglobinemia
- Sulfhemoglobinemia
- Reticulocytopenia
|
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Coagulation/
coagulopathy |
↑ |
Hyper-
coagulability |
- primary: Antithrombin III deficiency
- Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden
- Prothrombin G20210A
- Sticky platelet syndrome
- acquired:Thrombocytosis
- DIC
- Congenital afibrinogenemia
- Purpura fulminans
- autoimmune
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|
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↓ |
Hypo-
coagulability |
Thrombocytopenia |
- Thrombocytopenic purpura: ITP
- TM
- Heparin-induced thrombocytopenia
- May-Hegglin anomaly
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|
Platelet function |
- adhesion
- aggregation
- Glanzmann's thrombasthenia
- platelet storage pool deficiency
- Hermansky–Pudlak syndrome
- Gray platelet syndrome
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Clotting factor |
- Hemophilia
- von Willebrand disease
- Hypoprothrombinemia/II
- XIII
- Dysfibrinogenemia
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cell/phys (coag, heme, immu, gran), csfs
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rbmg/mogr/tumr/hist, sysi/epon, btst
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drug (B1/2/3+5+6), btst, trns
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UpToDate Contents
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English Journal
- Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (Xerocytosis).
- Andolfo I1,2, Russo R1,2, Manna F1,2, Shmukler BE3, Gambale A1,2, Vitiello G2,4, De Rosa G1,2, Brugnara C5, Alper SL3, Snyder LM6,7, Iolascon A1,2.
- American journal of hematology.Am J Hematol.2015 Jul 15. doi: 10.1002/ajh.24117. [Epub ahead of print]
- Dehydrated hereditary stomatocytosis (DHSt) is an autosomal dominant congenital hemolytic anemia with moderate splenomegaly and oftencompensated hemolysis. Affected red cells are characterized by a nonspecific cation leak of the red cell membrane, reflected in elevated sodium content, decreased pota
- PMID 26178367
- Erythrocyte pyruvate kinase deficiency: 2015 Status report.
- Grace RF1, Zanella A2, Neufeld EJ1, Morton DH3, Eber S4, Yaish H5, Glader B6.
- American journal of hematology.Am J Hematol.2015 Jun 19. doi: 10.1002/ajh.24088. [Epub ahead of print]
- Over the last several decades, our understanding of the genetic variation, pathophysiology, and complications of the hemolytic anemia associated with red cell pyruvate kinase deficiency has expanded. Nonetheless, there remain significant gaps in our knowledge with regard to clinical care and monitor
- PMID 26087744
- Peripheral expression of hepcidin gene in Egyptian β-thalassemia major.
- Aboul-Enein A1, El-Beshlawy A2, Hamdy M2, Shaheen I1, El-Saadany Z1, Samir A3, El-Samie HA1.
- Gene.Gene.2015 Jun 15;564(2):206-9. doi: 10.1016/j.gene.2015.03.048. Epub 2015 Mar 25.
- Iron overload is the major cause of morbidity and mortality in transfusion dependent β-thalassemia major patients. There is a sophisticated balance of body iron metabolism of storage and transport which is regulated by several factors including the peptide hepcidin. Hepcidin is the main iron regula
- PMID 25816754
Japanese Journal
- 日本におけるグルコース-6-リン酸脱水素酵素異常症
- 臨床研究・症例報告 新生児期に早発黄疸で発症し,eosin-5'-maleimide binding testが診断に有用であった遺伝性球状赤血球症例
- Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia
Related Links
- congenital hemolytic anemia n. See hereditary spherocytosis. con·gen·i·tal he·mo·lyt·ic a·ne·mi·a accelerated destruction of red blood cells due to an inherited defect, such as in the membrane in hereditary spherocytosis. con·gen·i ...
- Congenital hemolytic anemia symptoms, causes, diagnosis, and treatment information for Congenital hemolytic anemia (Hereditary spherocytic hemolytic anemia) with alternative diagnoses, full-text book chapters, misdiagnosis ...
Related Pictures
★リンクテーブル★
[★]
- 関
- congenital hemolytic anemia
[★]
- 関
- congenital、congenitally
[★]
- 関
- haemolysis、haemolytic、hemolysis、hemolyze
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