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Anisopoikilocytosis

MedGen UID:
436556
Concept ID:
C2675920
Finding
Synonym: Red cell anisopoikilocytosis
 
HPO: HP:0004823

Definition

A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnisopoikilocytosis

Conditions with this feature

Lathosterolosis
MedGen UID:
375885
Concept ID:
C1846421
Disease or Syndrome
Lathosterolosis (LATHOS) is an autosomal recessive disorder characterized by a recognizable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency (summary by Rossi et al., 2007).
Short stature with microcephaly and distinctive facies
MedGen UID:
862776
Concept ID:
C4014339
Disease or Syndrome
Short stature with microcephaly and distinctive facies is characterized by pre- or postnatal growth retardation, frontal bossing, high forehead, sparse hair and eyebrows, and telecanthus. Patients also show skin dyspigmentation, with hyper- and/or hypopigmented areas (Leduc et al., 2016).
Dehydrated hereditary stomatocytosis 2
MedGen UID:
908701
Concept ID:
C4225242
Disease or Syndrome
In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015). For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (194380).
Developmental and epileptic encephalopathy, 50
MedGen UID:
904125
Concept ID:
C4225320
Disease or Syndrome
Developmental and epileptic encephalopathy-50 (DEE50) is an autosomal recessive progressive neurodegenerative neurometabolic disorder characterized by delayed psychomotor development, early-onset refractory seizures, severe developmental regression, and normocytic anemia. Onset is within the first months or years of life. Evidence suggests that affected children can have a favorable response to treatment with uridine (summary by Koch et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350.
Thrombocytopenia, anemia, and myelofibrosis
MedGen UID:
1378448
Concept ID:
C4479504
Disease or Syndrome
3-methylglutaconic aciduria, type VIIA
MedGen UID:
1813022
Concept ID:
C5676967
Disease or Syndrome
3-Methylglutaconic aciduria (MGCA7) is an inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia. The phenotype is highly variable: most patients have infantile onset of a severe progressive encephalopathy with various movement abnormalities and delayed psychomotor development. Other common variable features include seizures, recurrent infections due to neutropenia, anemia, and brain imaging abnormalities (Wortmann et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (250950).

Professional guidelines

PubMed

Barosi G, Ambrosetti A, Finelli C, Grossi A, Leoni P, Liberato NL, Petti MC, Pogliani E, Ricetti M, Rupoli S, Visani G, Tura S
Br J Haematol 1999 Mar;104(4):730-7. doi: 10.1046/j.1365-2141.1999.01262.x. PMID: 10192432

Recent clinical studies

Etiology

Cheon EJ, Oh JS
BMC Pediatr 2024 Jan 20;24(1):69. doi: 10.1186/s12887-024-04546-z. PMID: 38245705Free PMC Article
Ouzzif Z, El Maataoui A, Oukhedda N, Messaoudi N, Mikdam M, Abdellatifi M, Doghmi K
Tunis Med 2017 Dec;95(12):229-233. PMID: 29878289
Madhavan S, Vijayakumar M, Rajajee S, Nammalwar BR
Indian Pediatr 2009 Mar;46(3):251-3. PMID: 19346573
Ishtiaq O, Baqai HZ, Anwer F, Hussain N
J Ayub Med Coll Abbottabad 2004 Jan-Mar;16(1):8-13. PMID: 15125172
Tekinalp G, Sarici SU, Erdinç AS, Gögüş S, Balci S, Gürgey A
Pediatr Hematol Oncol 2001 Dec;18(8):537-42. doi: 10.1080/088800101753328510. PMID: 11764104

Diagnosis

Sundaresan DD, Hira JK, Chhabra S, Trehan A, Khadwal AR, Malhotra P, Sharma P, Das R
Eur J Haematol 2023 May;110(5):510-517. Epub 2023 Jan 14 doi: 10.1111/ejh.13923. PMID: 36598439
Medri C, Méndez A, Hammerer-Lercher A, Rovó A, Angelillo-Scherrer A
J Med Case Rep 2022 Apr 10;16(1):145. doi: 10.1186/s13256-022-03374-y. PMID: 35397565Free PMC Article
Ouzzif Z, El Maataoui A, Oukhedda N, Messaoudi N, Mikdam M, Abdellatifi M, Doghmi K
Tunis Med 2017 Dec;95(12):229-233. PMID: 29878289
Barosi G, Ambrosetti A, Finelli C, Grossi A, Leoni P, Liberato NL, Petti MC, Pogliani E, Ricetti M, Rupoli S, Visani G, Tura S
Br J Haematol 1999 Mar;104(4):730-7. doi: 10.1046/j.1365-2141.1999.01262.x. PMID: 10192432
Foucar K, McKenna RW, Bloomfield CD, Bowers TK, Brunning RD
Cancer 1979 Apr;43(4):1285-96. doi: 10.1002/1097-0142(197904)43:4<1285::aid-cncr2820430416>3.0.co;2-j. PMID: 445330

Therapy

Cheon EJ, Oh JS
BMC Pediatr 2024 Jan 20;24(1):69. doi: 10.1186/s12887-024-04546-z. PMID: 38245705Free PMC Article
Yuan Y, Mapp S, Xu W
Br J Haematol 2020 Sep;190(5):642. Epub 2020 Jun 14 doi: 10.1111/bjh.16813. PMID: 32537738
Varo R, Sitoe A, Cossa A, Ordi J, Rozman M, Bassat Q
J Trop Pediatr 2018 Dec 1;64(6):553-556. doi: 10.1093/tropej/fmx101. PMID: 29272534
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB
Brain 2017 Feb;140(2):279-286. Epub 2016 Dec 21 doi: 10.1093/brain/aww300. PMID: 28007989
Foucar K, McKenna RW, Bloomfield CD, Bowers TK, Brunning RD
Cancer 1979 Apr;43(4):1285-96. doi: 10.1002/1097-0142(197904)43:4<1285::aid-cncr2820430416>3.0.co;2-j. PMID: 445330

Prognosis

Cheon EJ, Oh JS
BMC Pediatr 2024 Jan 20;24(1):69. doi: 10.1186/s12887-024-04546-z. PMID: 38245705Free PMC Article
Goubeaux DL, Li W
Blood 2018 Jan 4;131(1):153. doi: 10.1182/blood-2017-10-809178. PMID: 29301775
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB
Brain 2017 Feb;140(2):279-286. Epub 2016 Dec 21 doi: 10.1093/brain/aww300. PMID: 28007989
Stevenson WS, Morel-Kopp MC, Chen Q, Liang HP, Bromhead CJ, Wright S, Turakulov R, Ng AP, Roberts AW, Bahlo M, Ward CM
J Thromb Haemost 2013 Nov;11(11):2039-47. doi: 10.1111/jth.12368. PMID: 23927492
Sheikha A
J Pediatr Hematol Oncol 2004 Mar;26(3):164-8. doi: 10.1097/00043426-200403000-00005. PMID: 15125608

Clinical prediction guides

Stevenson WS, Morel-Kopp MC, Chen Q, Liang HP, Bromhead CJ, Wright S, Turakulov R, Ng AP, Roberts AW, Bahlo M, Ward CM
J Thromb Haemost 2013 Nov;11(11):2039-47. doi: 10.1111/jth.12368. PMID: 23927492
Erhabor O, Ejele OA, Nwauche CA, Buseri FI
Niger J Med 2005 Jan-Mar;14(1):33-8. doi: 10.4314/njm.v14i1.37132. PMID: 15832640
Camós M, Arellano-Rodrigo E, Abelló D, Muntañola A, Ferrer A, Grau JM, Cervantes F
Leuk Lymphoma 2003 Mar;44(3):539-41. doi: 10.1080/1042819021000046849. PMID: 12688329
Arellano-Rodrigo E, Esteve J, Giné E, Panés J, Cervantes F
Leuk Lymphoma 2002 Jul;43(7):1481-3. doi: 10.1080/1042819022386590. PMID: 12389633
Barosi G, Ambrosetti A, Finelli C, Grossi A, Leoni P, Liberato NL, Petti MC, Pogliani E, Ricetti M, Rupoli S, Visani G, Tura S
Br J Haematol 1999 Mar;104(4):730-7. doi: 10.1046/j.1365-2141.1999.01262.x. PMID: 10192432

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