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Hereditary spherocytosis type 5(HS5; SPH5)

MedGen UID:
436371
Concept ID:
C2675192
Disease or Syndrome
Synonyms: EPB42-Related Hereditary Spherocytosis; EPB42-Related Spherocytosis; Spherocytosis type 5
 
Gene (location): EPB42 (15q15.2)
 
Monarch Initiative: MONDO:0012985
OMIM®: 612690

Disease characteristics

Excerpted from the GeneReview: EPB42-Related Hereditary Spherocytosis
EPB42-related hereditary spherocytosis (EPB42-HS) is a chronic nonimmune hemolytic anemia that is usually of mild-to-moderate severity. EPB42-HS can present with jaundice as early as the first 24 hours of life or can present later in childhood with anemia resulting from a hemolytic crisis or aplastic crisis (usually associated with a viral infection). In addition to the hematologic manifestations, serious complications include splenomegaly, which can become evident in early childhood, and cholelithiasis, which usually becomes evident in the second or third decade of life. Typical laboratory findings in EPB42-HS include anemia (decreased hemoglobin [Hgb] level) and reticulocytosis (increased percentage of reticulocytes), with high mean corpuscular Hgb concentration, presence of spherocytes in the peripheral blood smear, significantly decreased or absent haptoglobin, mildly increased osmotic fragility in osmotic fragility assay, increased Omin (osmolality at which 50% of red blood cells hemolyze), and decreased maximal elongation index (EImax) in osmotic gradient ektacytometry. [from GeneReviews]
Authors:
Theodosia A Kalfa  |  Amber H Begtrup   view full author information

Additional description

From MedlinePlus Genetics
Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.

There are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form.

People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly. Many also develop gallstones. The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with the severe form have life-threatening anemia that requires frequent blood transfusions to replenish their red blood cell supply. They also have severe splenomegaly, jaundice, and a high risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities.  https://medlineplus.gov/genetics/condition/hereditary-spherocytosis

Clinical features

From HPO
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Reticulocytosis
MedGen UID:
60089
Concept ID:
C0206160
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
Spherocytosis
MedGen UID:
154301
Concept ID:
C0553720
Finding
The presence of erythrocytes that are sphere-shaped.
Abnormal platelet count
MedGen UID:
488925
Concept ID:
C0580317
Finding
Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.
Increased red cell osmotic fragility
MedGen UID:
376594
Concept ID:
C1849478
Finding
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Abnormal leukocyte count
MedGen UID:
488926
Concept ID:
C0580531
Finding
Number of leukocytes per volume of blood beyond normal limits.

Professional guidelines

PubMed

Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD
Br J Haematol 2020 Nov;191(3):486-496. Epub 2020 May 20 doi: 10.1111/bjh.16750. PMID: 32436265
Danise P, Amendola G, Nobili B, Perrotta S, Miraglia Del Giudice E, Matarese SM, Iolascon A, Brugnara C
Clin Lab Haematol 2001 Feb;23(1):7-13. doi: 10.1046/j.1365-2257.2001.00354.x. PMID: 11422224

Recent clinical studies

Etiology

Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA
Blood Cells Mol Dis 2023 Nov;103:102779. Epub 2023 Jul 16 doi: 10.1016/j.bcmd.2023.102779. PMID: 37558589
Campbell-Washburn AE, Mancini C, Conrey A, Edwards L, Shanbhag S, Wood J, Xue H, Kellman P, Bandettini WP, Thein SL
J Magn Reson Imaging 2022 Jun;55(6):1855-1863. Epub 2021 Oct 20 doi: 10.1002/jmri.27950. PMID: 34668604Free PMC Article
Garzón G LN, Jaramillo B LE, Valero H JJ, Quintero C EM
J Pediatr Surg 2021 Mar;56(3):550-552. Epub 2020 Jun 3 doi: 10.1016/j.jpedsurg.2020.05.039. PMID: 32624207
Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD
Br J Haematol 2020 Nov;191(3):486-496. Epub 2020 May 20 doi: 10.1111/bjh.16750. PMID: 32436265
Das A, Bansal D, Das R, Trehan A, Marwaha RK
Indian Pediatr 2014 Feb;51(2):139-41. doi: 10.1007/s13312-014-0348-5. PMID: 24632695

Diagnosis

Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA
Blood Cells Mol Dis 2023 Nov;103:102779. Epub 2023 Jul 16 doi: 10.1016/j.bcmd.2023.102779. PMID: 37558589
Garzón G LN, Jaramillo B LE, Valero H JJ, Quintero C EM
J Pediatr Surg 2021 Mar;56(3):550-552. Epub 2020 Jun 3 doi: 10.1016/j.jpedsurg.2020.05.039. PMID: 32624207
Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD
Br J Haematol 2020 Nov;191(3):486-496. Epub 2020 May 20 doi: 10.1111/bjh.16750. PMID: 32436265
Tao YF, Deng ZF, Liao L, Qiu YL, Chen WQ, Lin FQ
Ann Hematol 2015 May;94(5):747-51. Epub 2014 Dec 12 doi: 10.1007/s00277-014-2270-2. PMID: 25501660
Das A, Bansal D, Das R, Trehan A, Marwaha RK
Indian Pediatr 2014 Feb;51(2):139-41. doi: 10.1007/s13312-014-0348-5. PMID: 24632695

Therapy

Mack SJ, Pace DJ, Patil S, Cooke-Barber J, Boelig MM, Berman L
J Pediatr Surg 2024 Jan;59(1):117-123. Epub 2023 Sep 21 doi: 10.1016/j.jpedsurg.2023.09.010. PMID: 37833213
Elbadry MI, Khaled SAA, Ahmed NM, Abudeif A, Abdelkareem RM, Ezeldin M, Tawfeek A
Br J Haematol 2021 May;193(4):827-840. Epub 2021 Apr 25 doi: 10.1111/bjh.17484. PMID: 33899219
Crary SE, Ramaciotti C, Buchanan GR
Am J Hematol 2011 Dec;86(12):E73-6. Epub 2011 Sep 26 doi: 10.1002/ajh.22182. PMID: 21953840
Laflamme K, Owen AN, Devlin EE, Yang MQ, Wong C, Steiner LA, Garrett LJ, Elnitski L, Gallagher PG, Bodine DM
Mol Cell Biol 2010 Jul;30(14):3493-502. Epub 2010 May 17 doi: 10.1128/MCB.00119-10. PMID: 20479128Free PMC Article
Altintas E, Sezgin O
Med Hypotheses 2004;63(5):834-7. doi: 10.1016/j.mehy.2004.03.031. PMID: 15488656

Prognosis

Campbell-Washburn AE, Mancini C, Conrey A, Edwards L, Shanbhag S, Wood J, Xue H, Kellman P, Bandettini WP, Thein SL
J Magn Reson Imaging 2022 Jun;55(6):1855-1863. Epub 2021 Oct 20 doi: 10.1002/jmri.27950. PMID: 34668604Free PMC Article
Shahab-Movahed Z, Majd A, Siasi Torbati E, Zeinali S
Iran Biomed J 2021 Sep 1;25(5):359-67. doi: 10.52547/ibj.25.5.359. [Epub ahead of print] PMID: 34481427Free PMC Article
Garzón G LN, Jaramillo B LE, Valero H JJ, Quintero C EM
J Pediatr Surg 2021 Mar;56(3):550-552. Epub 2020 Jun 3 doi: 10.1016/j.jpedsurg.2020.05.039. PMID: 32624207
Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD
Br J Haematol 2020 Nov;191(3):486-496. Epub 2020 May 20 doi: 10.1111/bjh.16750. PMID: 32436265
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123

Clinical prediction guides

Campbell-Washburn AE, Mancini C, Conrey A, Edwards L, Shanbhag S, Wood J, Xue H, Kellman P, Bandettini WP, Thein SL
J Magn Reson Imaging 2022 Jun;55(6):1855-1863. Epub 2021 Oct 20 doi: 10.1002/jmri.27950. PMID: 34668604Free PMC Article
Shahab-Movahed Z, Majd A, Siasi Torbati E, Zeinali S
Iran Biomed J 2021 Sep 1;25(5):359-67. doi: 10.52547/ibj.25.5.359. [Epub ahead of print] PMID: 34481427Free PMC Article
Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD
Br J Haematol 2020 Nov;191(3):486-496. Epub 2020 May 20 doi: 10.1111/bjh.16750. PMID: 32436265
Lorand L, Iismaa SE
FASEB J 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. PMID: 30593123
Das A, Bansal D, Das R, Trehan A, Marwaha RK
Indian Pediatr 2014 Feb;51(2):139-41. doi: 10.1007/s13312-014-0348-5. PMID: 24632695

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