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.



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Narrow down the case reports



Total: 240 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(65.0%)
19763011
Hereditary spherocytosis in a 27-year-old woman: case report.
Hassan A, Babadoko AA, Isa AH, Abunimye P.
Ann Afr Med. 2009;8(1):61-3.
Jaundice Splenomegaly Hemolytic anemia Spherocytosis
Adult Dietary Supplements Females Homo sapiens Splenomegaly
2
(62.6%)
29200157
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.
Jaundice Splenomegaly Anemia Hyperbilirubinemia
Females Homo sapiens Hyperbilirubinemia Infant
2
(62.6%)
28847351
Hereditary Spherocytosis in the Neonatal Period: A Case Report.
Will A, Henderson CA, Jnah AJ, Newberry D.
Neonatal Netw. 2017;36(5):280-288.
Jaundice Splenomegaly Anemia Hyperbilirubinemia
Early Diagnosis Early Medical Intervention Hematologic Tests Homo sapiens Infant, Newborn Male Phototherapy Symptom Assessment
2
(62.6%)
27906107
(5134285)
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.
Jaundice Splenomegaly Anemia Fever
Abdominal Cavity Adult Anti-Bacterial Agents Females Homo sapiens Icterus Pyelonephritis Radiographic Image Enhancement Splenomegaly Thienamycins X-Ray Computed Tomography
2
(62.6%)
27423290
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.
Jaundice Splenomegaly Hemolytic anemia Hyperbilirubinemia
Abdominal Pain Child Cholelithiasis Elective Surgical Procedures Homo sapiens Icterus Male Nepal Splenectomy Splenomegaly
2
(62.6%)
25587528
(4291453)
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.
Jaundice Splenomegaly Hemolytic anemia Hyperbilirubinemia
2
(62.6%)
24026144
First experience with single incision laparoscopic surgery in Slovakia: concomitant cholecystectomy and splenectomy in an 11-year-old girl with hereditary spherocytosis.
Cingel V, Zabojnikova L, Kurucova P, Varga I.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2014;158(3):479-85.
Jaundice Splenomegaly Anemia Hyperbilirubinemia
ACE
Child Cholecystectomy, Laparoscopic Females Homo sapiens Laparoscopy Slovakia Splenectomy
2
(62.6%)
9637890
[Hereditary spherocytosis associated with severe hypophosphatemia in patients recovering from aplastic crisis].
Sahara N, Tamashima S, Ihara M.
Rinsho Ketsueki. 1998;39(5):386-91.
Jaundice Splenomegaly Hemolytic anemia Fever
Adult Aplastic Anemia Homo sapiens Hypophosphatemia Male
2
(62.6%)
8028187
[Megaloblastic anemia due to folate deficiency associated with hereditary spherocytosis].
Mori H, Takahashi N, Tada J, Higuchi T, Shimizu T, Harada H, Maeda T, Miyoshi Y, Okada S, Niikura H, et al..
Rinsho Ketsueki. 1994;35(4):397-402.
Jaundice Splenomegaly Megaloblastic anemia Fever
Adult Anemia, Megaloblastic Folic Acid Deficiency Homo sapiens Male
10
(62.2%)
8717295
[Intrathoracic extramedullary hematopoiesis in a case of hereditary spherocytosis].
Takahashi R, Igarashi T, Nakagawa A, Ohuchi H, Nishino M, Murakami S, Yoshida Y, Abe S.
Nihon Kyobu Shikkan Gakkai Zasshi. 1996;34(1):71-5.
Cholecystitis Splenomegaly Anemia Spherocytosis
Chest Homo sapiens Male Mediastinal Neoplasms Middle Aged
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0005502 Increased red cell osmotic fragility Very frequent (99-80%)
HP:0000952 Jaundice Frequent (79-30%)
HP:0000980 Pallor Frequent (79-30%)
HP:0001081 Cholelithiasis Frequent (79-30%)
HP:0001324 Muscle weakness Frequent (79-30%)
HP:0001744 Splenomegaly Frequent (79-30%)
HP:0001903 Anemia Frequent (79-30%)
HP:0001923 Reticulocytosis Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0002904 Hyperbilirubinemia Frequent (79-30%)
HP:0004444 Spherocytosis Frequent (79-30%)
HP:0005525 Spontaneous hemolytic crises Frequent (79-30%)
HP:0011900 Hypofibrinogenemia Frequent (79-30%)
HP:0025548 Increased mean corpuscular hemoglobin concentration Frequent (79-30%)
HP:0100724 Hypercoagulability Frequent (79-30%)
HP:0001251 Ataxia Occasional (29-5%)
HP:0001945 Fever Occasional (29-5%)
HP:0001978 Extramedullary hematopoiesis Occasional (29-5%)
HP:0002027 Abdominal pain Occasional (29-5%)
HP:0003326 Myalgia Occasional (29-5%)
HP:0005130 obsolete Restrictive heart failure Occasional (29-5%)
HP:0025143 Chills Occasional (29-5%)
HP:0040186 Maculopapular exanthema Occasional (29-5%)
HP:0001510 Growth delay Very rare (4-1%)
HP:0001997 Gout Very rare (4-1%)
HP:0003270 Abdominal distention Very rare (4-1%)
HP:0200042 Skin ulcer Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 88

HPO ID Term # of case reports
HP:0000952 Jaundice 21
HP:0001903 Anemia 20
HP:0001744 Splenomegaly 19
HP:0001878 Hemolytic anemia 15
HP:0001978 Extramedullary hematopoiesis 13
HP:0001081 Cholelithiasis 7
HP:0002904 Hyperbilirubinemia 7
HP:0002027 Abdominal pain 5
HP:0001945 Fever 4
HP:0004804 Congenital hemolytic anemia 4
HP:0001747 Accessory spleen 3
HP:0001909 Leukemia 3
HP:0010783 Erythema 3
HP:0000822 Hypertension 2
HP:0001082 Cholecystitis 2
HP:0001297 Stroke 2
HP:0001638 Cardiomyopathy 2
HP:0001873 Thrombocytopenia 2
HP:0001894 Thrombocytosis 2
HP:0002013 Vomiting 2
HP:0002140 Ischemic stroke 2
HP:0002202 Pleural effusion 2
HP:0002204 Pulmonary embolism 2
HP:0004444 Spherocytosis 2
HP:0004445 Elliptocytosis 2
HP:0004835 Microspherocytosis 2
HP:0008282 Unconjugated hyperbilirubinemia 2
HP:0011974 Myelofibrosis 2
HP:0100806 Sepsis 2
HP:0000011 Neurogenic bladder 1
HP:0000100 Nephrotic syndrome 1
HP:0000112 Nephropathy 1
HP:0000126 Hydronephrosis 1
HP:0000135 Hypogonadism 1
HP:0000143 Rectovaginal fistula 1
HP:0000238 Hydrocephalus 1
HP:0000819 Diabetes mellitus 1
HP:0000939 Osteoporosis 1
HP:0000979 Purpura 1
HP:0000989 Pruritus 1
HP:0001028 Hemangioma 1
HP:0001046 Intermittent jaundice 1
HP:0001254 Lethargy 1
HP:0001287 Meningitis 1
HP:0001350 Slurred speech 1
HP:0001394 Cirrhosis 1
HP:0001406 Intrahepatic cholestasis 1
HP:0001409 Portal hypertension 1
HP:0001433 Hepatosplenomegaly 1
HP:0001541 Ascites 1
HP:0001635 Congestive heart failure 1
HP:0001647 Bicuspid aortic valve 1
HP:0001648 Cor pulmonale 1
HP:0001655 Patent foramen ovale 1
HP:0001733 Pancreatitis 1
HP:0001876 Pancytopenia 1
HP:0001889 Megaloblastic anemia 1
HP:0001927 Acanthocytosis 1
HP:0001931 Hypochromic anemia 1
HP:0001971 Hypersplenism 1
HP:0002098 Respiratory distress 1
HP:0002099 Asthma 1
HP:0002148 Hypophosphatemia 1
HP:0002301 Hemiplegia 1
HP:0002315 Headache 1
HP:0002326 Transient ischemic attack 1
HP:0002721 Immunodeficiency 1
HP:0003265 Neonatal hyperbilirubinemia 1
HP:0003756 Skeletal myopathy 1
HP:0004870 Chronic hemolytic anemia 1
HP:0004936 Venous thrombosis 1
HP:0005110 Atrial fibrillation 1
HP:0005521 Disseminated intravascular coagulation 1
HP:0006846 Acute encephalopathy 1
HP:0009830 Peripheral neuropathy 1
HP:0012151 Hemothorax 1
HP:0012330 Pyelonephritis 1
HP:0012378 Fatigue 1
HP:0025143 Chills 1
HP:0025268 Stuttering 1
HP:0030834 Shoulder pain 1
HP:0031273 Shock 1
HP:0032366 Positive direct antiglobulin test 1
HP:0100727 Histiocytosis 1
HP:0100749 Chest pain 1
HP:0200023 Priapism 1
HP:0410019 Epigastric pain 1
HP:0410288 Hyperamylasemia 1


Causative gene(s) retrieved from Orphanet

    Total: 5

Gene Symbol Gene Name Entrez Gene ID
SLC4A1 solute carrier family 4 member 1 (Diego blood group) 6521
SPTA1 spectrin alpha, erythrocytic 1 6708
SPTB spectrin beta, erythrocytic 6710
ANK1 ankyrin 1 286
EPB42 erythrocyte membrane protein band 4.2 2038