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.

Splenomegaly

Abnormal increased size of the spleen.


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PMID (PMCID)
30789396
 MALE
Hereditary Spherocytosis Presenting as Diffuse Bone Marrow Activation and Splenomegaly on PSMA-Targeted 18F-DCFPyL PET/CT.
Gomez E, Tran PT, Pienta KJ, Pomper MG, Gorin MA, Rowe SP.
Clin Nucl Med. 2019;44(4):e313-e314.
PSMA-targeted F-DCFPyL PET/CT was performed, which demonstrated recurrent disease in the prostatectomy bed as well as splenomegaly and mild-diffuse bone marrow activation, consistent with the patient's history of hereditary spherocytosis.
30789396
 MALE
Hereditary Spherocytosis Presenting as Diffuse Bone Marrow Activation and Splenomegaly on PSMA-Targeted 18F-DCFPyL PET/CT.
Gomez E, Tran PT, Pienta KJ, Pomper MG, Gorin MA, Rowe SP.
Clin Nucl Med. 2019;44(4):e313-e314.
Hereditary Spherocytosis Presenting as Diffuse Bone Marrow Activation and Splenomegaly on PSMA-Targeted 18F-DCFPyL PET/CT.
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.
28321066
(5410476)
 MALE Young Adult
Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia.
Aiso M, Yagi M, Tanaka A, Miura K, Miura R, Arizumi T, Takamori Y, Nakahara S, Maruo Y, Takikawa H.
Intern Med. 2017;56(6):661-664.
In addition, since the laboratory findings and imaging studies revealed lysemia as well as gallstone and splenomegaly, a diagnosis of hereditary spherocytosis was made as a comorbidity.
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.
The classical clinical features of hereditary spherocytosis are anemia, jaundice, and splenomegaly.
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.
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.
20924216
(3304593)
 MALE Adult
A case of concomitant Gilbert's syndrome and hereditary spherocytosis.
Lee HJ, Moon HS, Lee ES, Kim SH, Sung JK, Lee BS, Jeong HY, Lee HY, Eu YJ.
Korean J Hepatol. 2010;16(3):321-4.
We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilbert's syndrome (GS).
20618221
 MALE Child
Orthotopic heart transplantation in a child with hereditary spherocytosis.
Johnson CE, Schmitz ML, McKamie WA, Edens RE, Imamura M, Jaquiss RD.
Artif Organs. 2010;34(12):1154-6.
Hereditary spherocytosis (HS) is a genetic, frequently familial hemolytic blood disease that presents with varying degrees of hemolytic anemia, splenomegaly, and jaundice.The disease arises as a result of defects in any of a number of proteins responsible for maintaining the shape and flexibility of the red blood cell, resulting in an osmotically fragile and characteristically spherical red blood cell.
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.
18397616
 MIXED_SAMPLE
[Laparoscopic splenectomy in children with hereditary spherocytosis].
Petersen CR, Bulut O, Jess P.
Ugeskr Laeger. 2008;170(11):925-6.
Based on the positive international experience with laparoscopic splenectomy on a large number of patients since 1991, we treated two teenagers with symptomatic hereditary spherocytosis and moderate splenomegaly.
12403390
 MALE Middle Aged
Extramedullary paraspinal hematopoiesis in hereditary spherocytosis.
De Backer AI, Zachee P, Vanschoubroeck IJ, Mortele KJ, Ros PR, Kockx MM.
JBR-BTR. 2002;85(4):206-8.
We report on a 60-year-old man with hereditary spherocytosis who presented with an extramedullary paraspinal hematopoietic mass, splenomegaly, and bone marrow expansion in the right distal femur and proximal tibia metaphysis.
12590727
 FEMALE Adult
Urgent laparoscopic splenectomy in a morbidly obese pregnant woman: case report and literature review.
Allran CF Jr, Weiss CA 3rd, Park AE.
J Laparoendosc Adv Surg Tech A. 2002;12(6):445-7.
Here, we present a case of successful LS in a morbidly obese pregnant woman with splenomegaly and hemolysis secondary to hereditary spherocytosis.
9168768
 FEMALE
Concomitant laparoscopic cholecystectomy and splenectomy for surgical management of hereditary spherocytosis.
Patton ML, Moss BE, Haith LR Jr, Shotwell BA, Milliner DH, Simeone MR, Kraut JD, Patton JN.
Am Surg. 1997;63(6):536-9.
In conclusion, we present a combined laparoscopic cholecystectomy and splenectomy for hereditary spherocytosis associated with splenomegaly, cholelithiasis, and cholecystitis.
9426643
 MALE Middle Aged
Does a patient with hereditary spherocytosis qualify for preoperative autologous blood donation?
Weinstein R, Martinez R, Hassoun H, Palek J.
Transfusion. 1997;37(11-12):1179-83.
Hereditary spherocytosis (HS) is characterized by osmotically fragile spherocytic red cells (RBCs), mild to moderate hemolysis, and splenomegaly.
9595784
 MIXED_SAMPLE Adult
[Video laparoscopic splenectomy in a patient with splenomegaly due to hereditary spherocytosis: report of two cases].
Machado MA, da Rocha JR, Bove C, Herman P, Machado MC.
Rev Hosp Clin Fac Med Sao Paulo. 1997;52(5):276-8.
[Video laparoscopic splenectomy in a patient with splenomegaly due to hereditary spherocytosis: report of two cases].
8840460
 MALE Adult
Laparoscopic splenectomy aided by balloon occlusion of the splenic artery: report of a case.
Yamashita H, Ohuchida J, Shimura H, Aibe H, Honda H, Kuroki S, Chijiiwa K, Tanaka M.
Surg Laparosc Endosc. 1996;6(4):326-9.
For safe and efficient laparoscopic splenectomy, we performed balloon occlusion of the splenic artery with the interventional angiographic technique in a patient with hereditary spherocytosis and splenomegaly.
8471774
 FEMALE Adult
Human erythrocyte protein 4.2 deficiency associated with hemolytic anemia and a homozygous 40glutamic acid-->lysine substitution in the cytoplasmic domain of band 3 (band 3Montefiore).
Rybicki AC, Qiu JJ, Musto S, Rosen NL, Nagel RL, Schwartz RS.
Blood. 1993;81(8):2155-65.
Red blood cell (RBC) protein 4.2 deficiency is often associated with a moderate nonimmune hemolytic anemia, splenomegaly, and osmotically fragile RBCs resembling, but not identical to, hereditary spherocytosis (HS).