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.

Anemia

A reduction in erythrocytes volume or hemoglobin concentration.


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PMID (PMCID)
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.
29594000
(5842958)
 OTHER
Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis.
Hannah DM, Tressler TB, Taboada CD.
Case Rep Womens Health. 2017;16:4-7.
The autosomal recessive form of hereditary spherocytosis is rarely reported in association with fetal anemia and hydrops fetalis.
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.
27118929
(4845368)
 OTHER
Giant right ventricular outflow tract thrombus in hereditary spherocytosis: a case report.
Davidsen C, Larsen TH, Gerdts E, Lonnebakken MT.
Thromb J. 2016;14:9.
In hereditary spherocytosis with severe anemia, splenectomy is a recommended treatment.
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.
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.
26073240
 MALE Middle Aged
Hereditary Spherocytosis in a Middle-aged Man Complicated with Common Bile Duct Stones.
Sawahara H, Iwamuro M, Harada R, Yoshioka M, Niguma T, Mimura T, Yamamoto K.
Intern Med. 2015;54(12):1509-12.
In the differential diagnosis of these symptoms, the possibility of hereditary spherocytosis should be considered, even in patients who are middle-aged and lack anemia.
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.
Hereditary spherocytosis is an autosomal dominant congenital hemolytic anemia due to defect in RBC membrane protein that commonly presents with intermittent jaundice, anemia, abdominal pain, splenomegaly and sometimes cholelithiasis.
24618088
(3995927)
 MIXED_SAMPLE Adult
Human parvovirus B19-induced aplastic crisis in an adult patient with hereditary spherocytosis: a case report and review of the literature.
Kobayashi Y, Hatta Y, Ishiwatari Y, Kanno H, Takei M.
BMC Res Notes. 2014;7:137.
A 33-year-old woman with hereditary spherocytosis and gallstones was admitted because of rapid progress in marked anemia and fever.
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.
19740448
(2753340)
 MALE Infant
Complications of Evans' syndrome in an infant with hereditary spherocytosis: a case report.
Yoshida H, Ishida H, Yoshihara T, Oyamada T, Kuwana M, Imamura T, Morimoto A.
J Hematol Oncol. 2009;2:40.
Hereditary spherocytosis (HS) is a genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice and splenomegaly.
16122152
 MIXED_SAMPLE Child
Hereditary spherocytosis veiled by anemia and iron deficiency.
Kutter D, Gulbis B.
Clin Lab. 2005;51(7-8):411-8.
Hereditary spherocytosis veiled by anemia and iron deficiency.
14520589
 FEMALE Child
[Parvovirus B 19 associated hemophagocytic syndrome in a patient with hereditary sperocytosis].
Hermann J, Steinbach D, Lengemann J, Zintl F.
Klin Padiatr. 2003;215(5):270-4.
We here report on an eight year old girl with hereditary spherocytosis who was admitted to hospital with high temperature, headache, impaired consciousness and a profound anemia (Hb 2.9 mmol/l).
12818755
 MALE Infant, Newborn
[Recombinant Human Erythropoietin (r-HuEPO) therapy in a newborn with hereditary spherocytosis].
Schiff M, Hays S, Sann L, Putet G.
Arch Pediatr. 2003;10(4):333-6.
The newborn with hereditary spherocytosis can develop severe anemia, requiring red blood cell transfusions.
12185384
 FEMALE Adult
beta-Spectrin Sao PauloII, a novel frameshift mutation of the beta-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA.
Basseres DS, Tavares AC, Costa FF, Saad ST.
Braz J Med Biol Res. 2002;35(8):921-5.
Hereditary spherocytosis (HS) is a common inherited anemia characterized by the presence of spherocytic red cells.
11233774
 MALE Middle Aged
Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with hereditary spherocytosis.
Xiros N, Economopoulos T, Papageorgiou E, Mantzios G, Raptis S.
Ann Hematol. 2001;80(1):38-40.
We report on a 64-year-old man with hereditary spherocytosis, who presented with anemia, jaundice, intrathoracic EMH, and massive hemothorax.
9828292
 MALE Middle Aged
Cardiac surgery using only autologous blood for a patient with hereditary spherocytosis: a case report.
Yamagishi I, Sakurada T, Abe T.
Ann Thorac Cardiovasc Surg. 1998;4(5):294-7.
Preoperative evaluations however, demonstrated anemia derived from hereditary spherocytosis (HS), an inherited hemolytic disorder.
8621763
 FEMALE
Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation.
Inaba M, Yawata A, Koshino I, Sato K, Takeuchi M, Takakuwa Y, Manno S, Yawata Y, Kanzaki A, Sakai J, Ban A, Ono K, Maede Y.
J Clin Invest. 1996;97(8):1804-17.
We studied bovine subjects that exhibited a moderate uncompensated anemia with hereditary spherocytosis inherited in an autosomal incompletely dominant mode and retarded growth.