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)
19
(56.4%)
20618221
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.
Jaundice Splenomegaly Hemolytic anemia
Child Heart Transplantation Hematologic Tests Homo sapiens Male
19
(56.4%)
19740448
(2753340)
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.
Jaundice Splenomegaly Anemia
Homo sapiens Infant Male Syndrome
19
(56.4%)
14686490
Dominant beta-thalassemia with hemoglobin Hradec Kralove: enhanced hemolysis in the spleen.
Ohga S, Nomura A, Takada H, Kato J, Ideguchi H, Hattori Y, Suda M, Suita S, Hara T.
Int J Hematol. 2003;78(4):329-34.
Jaundice Splenomegaly Microcytic anemia
p|SUB|GCC,A|115|GAC
Abnormal Hemoglobins Adult Anemia, Hemolytic Child Females Homo sapiens Spleen Splenectomy beta Thalassemia
19
(56.4%)
8925755
[Hemolytic anemia as cause of a marked bilirubin increase in primary biliary cirrhosis].
Mahl MA, von Schonfeld J, Uppenkamp M, Breuer N.
Dtsch Med Wochenschr. 1996;121(40):1226-8.
Jaundice Splenomegaly Hemolytic anemia
HP
Alkaline Phosphatase Anemia, Hemolytic Differential Diagnosis Females Homo sapiens Hyperbilirubinemia Middle Aged
25
(56.2%)
29505016
(5779785)
Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family.
Shin S, Jang W, Kim M, Kim Y, Park SY, Park J, Yang YJ.
Medicine (Baltimore). 2018;97(3):e9677.
Splenomegaly Hemolytic anemia Hyperbilirubinemia
c|SUB|G|1956|A p|SUB|W|652|*
Asians Codon, Nonsense Females Homo sapiens Spectrin
25
(56.2%)
20924216
(3304593)
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.
Splenomegaly Anemia Hyperbilirubinemia
UGT1A1
c|SUB|G|211|A;RS#:4148323 c|SUB|T|-3279|G
Adult Alleles Ankyrins Glucuronosyltransferase Heterozygote Homo sapiens Male Mutation Polyacrylamide Gel Electrophoresis Sequence Analysis, DNA Splenomegaly Tertiary Protein Structure
25
(56.2%)
2545942
[Hereditary spherocytosis first diagnosed upon the development of aplastic crisis; a case report].
Aonuma K, Morohashi F, Nakahata T, Komiyama A, Akabane T.
Rinsho Ketsueki. 1989;30(2):266-70.
Splenomegaly Anemia Fever
Aplastic Anemia Child Homo sapiens Male
28
(56.0%)
23624969
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.
Jaundice Spherocytosis
Coombs Test Erythrocyte Indices Homo sapiens Icterus Infant, Newborn Male Spectrin Spherocytes
28
(56.0%)
22993492
Hereditary spherocytosis in a malay patient with chronic haemolysis.
Sheikh MK, Yusoff NM, Kaur G, Khan FA.
Malays J Med Sci. 2007;14(2):54-7.
Jaundice Spherocytosis
30
(55.8%)
20932387
(3043586)
Single incision laparoscopic splenectomy in a 5-year-old with hereditary spherocytosis.
Hansen EN, Muensterer OJ.
JSLS. 2010;14(2):286-8.
Anemia Hypersplenism Spherocytosis
Child, Preschool Homo sapiens Laparoscopy Male Splenectomy
        

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