Hereditary spherocytosis

Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

Jaundice

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.


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PMID (PMCID)
31205791
 OTHER
Flow Cytometric Test with Eosin-5-Maleimide for a Diagnosis of Hereditary Spherocytosis in a Newborn.
Fanhchaksai K, Manowong S, Natesirinilkul R, Sathitsamitphong L, Charoenkwan P.
Case Rep Hematol. 2019;2019:5925731.
A term male newborn born to a mother who had hereditary spherocytosis presented with neonatal jaundice at 208201hours of life.
29200157
 FEMALE Infant
An Infant With Unusually High Unconjugated Hyperbilirubinemia Due to Coexistence of Hereditary Spherocytosis and Gilbert Syndrome.
Butorac Ahel I, Baraba Dekanic K, Palcevski G, Roganovic J.
J Pediatr Hematol Oncol. 2018;40(2):e127-e128.
Hereditary spherocytosis is the most frequent congenital hemolytic anemia and is characterized with variable degree of anemia, jaundice, and splenomegaly.
29096349
(5686225)
 OTHER
Extramedullary Hematopoiesis Mimicking Mediastinal Tumor in a Patient with Hereditary Spherocytosis: Case report.
Park JB, Lee SA, Kim YH, Lee WS, Hwang JJ.
Int J Surg Case Rep. 2017;41:223-225.
A 45-year-old man who presented with anemia, jaundice and abdominal pain was diagnosed with hereditary spherocytosis.
27108201
 MIXED_SAMPLE Adult
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases.
Jamwal M, Aggarwal A, Kumar V, Sharma P, Sachdeva MU, Bansal D, Malhotra P, Das R.
Clin Chim Acta. 2016;458:51-4.
Hereditary spherocytosis (HS) is a common inherited hemolytic anemia characterized by heterogeneous clinical presentations with variable degrees of anemia, jaundice, splenomegaly and gallstones.
27566068
(5002123)
 MALE Middle Aged
Open-heart surgery using a centrifugal pump: a case of hereditary spherocytosis.
Matsuzaki Y, Tomioka H, Saso M, Azuma T, Saito S, Aomi S, Yamazaki K.
J Cardiothorac Surg. 2016;11(1):138.
Hereditary spherocytosis is a genetic, frequently familial hemolytic blood disease characterized by varying degrees of hemolytic anemia, splenomegaly, and jaundice.
27906107
(5134285)
 FEMALE Adult
Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report.
Tateno Y, Suzuki R, Kitamura Y.
J Med Case Rep. 2016;10(1):337.
It is important to note that transient anemia or jaundice can sometimes be the only initial presenting symptoms in cases of undiagnosed latent hereditary spherocytosis.
27906107
(5134285)
 FEMALE Adult
Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report.
Tateno Y, Suzuki R, Kitamura Y.
J Med Case Rep. 2016;10(1):337.
The classical clinical features of hereditary spherocytosis are anemia, jaundice, and splenomegaly.
27906107
(5134285)
 FEMALE Adult
Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report.
Tateno Y, Suzuki R, Kitamura Y.
J Med Case Rep. 2016;10(1):337.
A 42-year-old Asian woman presented to our clinic with a sudden onset of high fever with shaking chills and jaundice, suggesting septicemia; however, following detailed investigation, the patient was diagnosed with pyelonephritis and accelerated hemolysis of hereditary spherocytosis due to infection.
27906107
(5134285)
 FEMALE Adult
Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report.
Tateno Y, Suzuki R, Kitamura Y.
J Med Case Rep. 2016;10(1):337.
Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report.
26379354
(4567607)
 OTHER
Hereditary Spherocytosis Unmasked by Human Parvovirus B19 Induced Aplastic Crisis in a Family.
Alavi S Md, Arabi N Md, Yazdi MK Md, Arzanian MT Md, Zohrehbandian F MSc.
Iran J Med Sci. 2015;40(5):461-4.
The clinical importance of this report is that in the case of an abrupt onset of unexplained severe anemia and jaundice, one should consider underlying hemolytic anemias mostly hereditary spherocytosis complicated by HPV B19 aplastic crisis.
27423290
 MALE Child
Hereditary Spherocytosis with Splenomegaly and Cholelithiasis in a Young Male of Western Region of Nepal - A Case Report.
Ghimire P, Gurung NV, Shrestha S, Poudel SR, Chapagain A.
Kathmandu Univ Med J (KUMJ). 2015;13(52):366-8.
This is a report of an 11 years old male diagnosed case of hereditary spherocytosis who presented with jaundice, splenomegaly and cholelithiasis.
25587528
(4291453)
 OTHER
Coexistence of gilbert syndrome and hereditary spherocytosis in a child presenting with extreme jaundice.
Lee JH, Moon KR.
Pediatr Gastroenterol Hepatol Nutr. 2014;17(4):266-9.
Coexistence of gilbert syndrome and hereditary spherocytosis in a child presenting with extreme jaundice.
25277063
 MALE Infant, Newborn
Novel alpha-spectrin mutation in trans with alpha-spectrin causing severe neonatal jaundice from hereditary spherocytosis.
Nussenzveig RH, Christensen RD, Prchal JT, Yaish HM, Agarwal AM.
Neonatology. 2014;106(4):355-7.
Novel 945-spectrin mutation in trans with 945-spectrin causing severe neonatal jaundice from hereditary spherocytosis.
23632607
 MALE Adult
A cholestatic diagnostic dilemma.
Kalinke L, Rashid M.
BMJ Case Rep. 2013;2013:.
A 28-year-old man with hereditary spherocytosis presented with abdominal pain and jaundice.
23624969
 MALE Infant, Newborn
A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency.
Yaish HM, Christensen RD, Agarwal A.
J Perinatol. 2013;33(5):404-6.
The diagnosis of hereditary spherocytosis (HS) in a newborn infant is generally made on the basis of a positive family history, spherocytes on blood film and Coombs-negative hemolytic jaundice of variable severity with an elevated mean corpuscular hemoglobin concentration (MCHC) and a low mean corpuscular volume (MCV).
23624969
 MALE Infant, Newborn
A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency.
Yaish HM, Christensen RD, Agarwal A.
J Perinatol. 2013;33(5):404-6.
A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency.
22781715
 FEMALE Adult
[Congenital dyserythropoietic anemia type II: a case report and literature review].
Li Y, Zhao X, Zhou K, Li Y, Li JP, Ye L, Peng GX, Fan HH, Jing LP, Zhang L, Zhang FK.
Zhonghua Xue Ye Xue Za Zhi. 2012;33(4):270-3.
The 32-years old female presented with moderate anemia, jaundice and hepatosplenomegaly from her childhood and was misdiagnosed as hereditary spherocytosis for a long time.
21811948
 MALE
Excessive bilirubin elevation in a patient with hereditary spherocytosis and intrahepatic cholestasis.
Wree A, Canbay A, Muller-Beissenhirtz H, Dechene A, Gerken G, Duhrsen U, Lammert F, Nuckel H.
Z Gastroenterol. 2011;49(8):977-80.
A18 year old Turkish patient with hereditary spherocytosis was admitted to hospital with pruritus and severe jaundice.
22689841
 FEMALE Infant, Newborn
Intractable neonatal jaundice due to hereditary spherocytosis and Gilbert's syndrome.
Ismail AQ, Gandhi A, El-Shimy N.
BMJ Case Rep. 2011;2011:.
Intractable neonatal jaundice due to hereditary spherocytosis and Gilbert's syndrome.
22689841
 FEMALE Infant, Newborn
Intractable neonatal jaundice due to hereditary spherocytosis and Gilbert's syndrome.
Ismail AQ, Gandhi A, El-Shimy N.
BMJ Case Rep. 2011;2011:.
In this article the authors present a case of pathological neonatal jaundice resistant to phototherapy in a baby with a family history of Gilbert's syndrome and hereditary spherocytosis.