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- HPP
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Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/05/20 22:27:51」(JST)
[Wiki en表示]
| Hereditary pyropoikilocytosis |
| Classification and external resources |
| OMIM |
266140 |
Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by an abnormal sensitivity of red blood cells to heat and erythrocyte morphology similar to that seen in thermal burns. Patients with HPP tend to experience severe haemolysis and anaemia in infancy that gradually improves, evolving toward typical elliptocytosis later in life. However, the hemolysis can lead to rapid sequestration and destruction of red cells. Splenectomy is curative when this occurs.
HPP has been associated with a defect of the erythrocyte membrane protein spectrin and with spectrin deficiency.
It was characterized in 1975.[1]
It is considered a severe form of hereditary elliptocytosis.[2]
See also
- Erythrocyte
- Poikilocytosis
- List of hematologic conditions
References
- ^ Zarkowsky HS, Mohandas N, Speaker CB, Shohet SB (1975). "A congenital haemolytic anaemia with thermal sensitivity of the erythrocyte membrane". Br J Haematol 29 (4): 537–43. doi:10.1111/j.1365-2141.1975.tb02740.x. PMID 1191563.
- ^ King MJ, Jepson MA, Guest A, Mushens R (April 2011). "Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins". Int J Lab Hematol 33 (2): 205–11. doi:10.1111/j.1751-553X.2010.01270.x. PMID 21054813.
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Cytoskeletal defects
|
|
| Microfilaments |
| Myofilament |
| Actin |
- Hypertrophic cardiomyopathy 11
- Dilated cardiomyopathy 1AA
- DFNA20
- Nemaline myopathy 3
|
|
| Myosin |
- Elejalde syndrome
- Hypertrophic cardiomyopathy 1, 8, 10
- Usher syndrome 1B
- Freeman–Sheldon syndrome
- DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
- May-Hegglin anomaly
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|
| Troponin |
- Hypertrophic cardiomyopathy 7, 2
- Nemaline myopathy 4, 5
|
|
| Tropomyosin |
- Hypertrophic cardiomyopathy 3
- Nemaline myopathy 1
|
|
| Titin |
- Hypertrophic cardiomyopathy 9
|
|
|
| Other |
- Fibrillin
- Marfan syndrome
- Weill-Marchesani syndrome
- Filamin
- FG syndrome 2
- Boomerang dysplasia
- Larsen syndrome
- Terminal osseous dysplasia with pigmentary defects
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|
|
| IF |
| 1/2 |
- Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
- Striate palmoplantar keratoderma 3
- Epidermolytic hyperkeratosis
- IHCM
- KRT2E (Ichthyosis bullosa of Siemens)
- KRT3 (Meesmann juvenile epithelial corneal dystrophy)
- KRT4 (White sponge nevus)
- KRT5 (Epidermolysis bullosa simplex)
- KRT8 (Familial cirrhosis)
- KRT10 (Epidermolytic hyperkeratosis)
- KRT12 (Meesmann juvenile epithelial corneal dystrophy)
- KRT13 (White sponge nevus)
- KRT14 (Epidermolysis bullosa simplex)
- KRT17 (Steatocystoma multiplex)
- KRT18 (Familial cirrhosis)
- KRT81/KRT83/KRT86 (Monilethrix)
- Naegeli–Franceschetti–Jadassohn syndrome
- Reticular pigmented anomaly of the flexures
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| 3 |
- Desmin: Desmin-related myofibrillar myopathy
- Dilated cardiomyopathy 1I
- Peripherin: Amyotrophic lateral sclerosis
|
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| 4 |
- Neurofilament: Parkinson's disease
- Charcot–Marie–Tooth disease 1F, 2E
- Amyotrophic lateral sclerosis
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| 5 |
- Laminopathy: LMNA
- Mandibuloacral dysplasia
- Dunnigan Familial partial lipodystrophy
- Emery-Dreifuss muscular dystrophy 2
- Limb-girdle muscular dystrophy 1B
- Charcot–Marie–Tooth disease 2B1
- LMNB
- Barraquer–Simons syndrome
- LEMD3
- Buschke–Ollendorff syndrome
- Osteopoikilosis
- LBR
- Pelger-Huet anomaly
- Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
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|
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| Microtubules |
| Kinesin |
- Charcot–Marie–Tooth disease 2A
- Hereditary spastic paraplegia 10
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| Dynein |
- Primary ciliary dyskinesia
- Short rib-polydactyly syndrome 3
- Asphyxiating thoracic dysplasia 3
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| Other |
- Tauopathy
- Cavernous venous malformation
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|
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| Membrane |
- Spectrin: Spinocerebellar ataxia 5
- Hereditary spherocytosis 2, 3
- Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
- Hereditary spherocytosis 1
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|
| Catenin |
- APC
- Gardner's syndrome
- Familial adenomatous polyposis
- plakoglobin (Naxos syndrome)
- GAN (Giant axonal neuropathy)
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| Other |
- desmoplakin: Striate palmoplantar keratoderma 2
- Carvajal syndrome
- Arrhythmogenic right ventricular dysplasia 8
- plectin: Epidermolysis bullosa simplex with muscular dystrophy
- Epidermolysis bullosa simplex of Ogna
- plakophilin: Skin fragility syndrome
- Arrhythmogenic right ventricular dysplasia 9
- centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
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See also: cytoskeletal proteins
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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|
UpToDate Contents
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English Journal
- Clinical Image: Hereditary Elliptocytosis with Pyropoikilocytosis.
- Bayhan T1, Unal S, Gumruk F.
- Turkish journal of haematology : official journal of Turkish Society of Haematology.Turk J Haematol.2015 Aug 6. doi: 10.4274/tjh.2015.0054. [Epub ahead of print]
- PMID 26377499
- Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis.
- Christensen RD1, Nussenzveig RH, Reading NS, Agarwal AM, Prchal JT, Yaish HM.
- Neonatology.Neonatology.2014;105(1):1-4. doi: 10.1159/000354884. Epub 2013 Oct 31.
- We cared for a neonate who had problematic hyperbilirubinemia born into a family where nine first-degree relatives had hereditary elliptocytosis (HE). As neonates, the nine relatives did not have any significant jaundice or anemia that was recognizable. Blood films on the proband suggested a diagnos
- PMID 24193021
- Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.
- Swierczek S1, Agarwal AM, Naidoo K, Lorenzo FR, Whisenant J, Nussenzveig RH, Agarwal N, Coetzer TL, Prchal JT.
- Haematologica.Haematologica.2013 Dec;98(12):1972-9. doi: 10.3324/haematol.2013.086629. Epub 2013 Sep 27.
- Hereditary pyropoikilocytosis is a severe hemolytic anemia caused by spectrin deficiency and defective spectrin dimer self-association, typically found in African populations. We describe two Utah families of northern European ancestry including 2 propositi with atypical non-microcytic hereditary py
- PMID 24077844
Japanese Journal
- 先天性溶血性貧血の病型および鑑別診断法の進歩と今後の課題 (第55回日本小児血液・がん学会学術集会特集号) -- (教育セッション 赤血球系疾患)
- 日本小児血液・がん学会雑誌 = Japanese journal of Pediatric Hematology/Oncology 51(5), 446-451, 2014
- NAID 40020343578
- Ｓｐｅｃｔｒｉｎ機能異常（Ｓｐα｀１／７４´）を伴った遺伝性楕円赤血球症の１家系
- Hereditary pyropoikilocytosis and elliptocytosis:Clinical,laboratory,and ultrastructural features in infant and children.
Related Links
- Hereditary pyropoikilocytosis is a severe form of congenital hemolytic anemia. It is clinically similar to, and now considered a subtype of, homozygous hereditary elliptocytosis. Hereditary pyropoikilocytosis is an autosomal recessive disorder that produces a molecular defect in spectrin and a partial ...
- hereditary pyropoikilocytosis hereditary pyropoikilocytosis An autosomal recessive disorder (OMIM:26614) characterised by haemolytic anaemia, microspherocytosis, poikilocytosis and an increased thermal sensitivity of red cells.
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