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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Total: 240 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
11
(60.6%)
24629905
[Aplastic crisis due to parvovirus B19 and Epstein-Barr virus in a patient with hereditary spherocytosis].
Leoz Gordillo I, Perez Suarez E.
An Pediatr (Barc). 2015;82(1):e102-7.
Jaundice Hepatosplenomegaly Anemia Fever
Anemia, Hemolytic Child, Preschool Epstein-Barr Virus Infections Erythema Infectiosum Females Homo sapiens
11
(60.6%)
686044
Extreme hyperbilirubinemia in a patient with hereditary spherocytosis, Gilbert's syndrome, and obstructive jaundice.
Katz ME, Weinstein IM.
Am J Med Sci. 1978;275(3):373-9.
Jaundice Hepatosplenomegaly Anemia Hyperbilirubinemia
Cholestasis Erythrocyte Aging Homo sapiens Hyperbilirubinemia Hyperbilirubinemia, Hereditary Male
13
(60.1%)
21378480
[Low-titer cold agglutinin disease following Salmonella gastroenteritis].
Kobayashi K, Hamaki T, Ohwada A, Tomiyama J, Sakuma R, Mizuta Y, Moriyama A, Yamamoto E, Akiya I, Fujita H.
Rinsho Ketsueki. 2011;52(1):32-6.
Cyanosis Anemia Fever Diarrhea Spherocytosis
Anemia, Hemolytic Gastroenteritis Homo sapiens Male Middle Aged
14
(59.8%)
26073240
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.
Cholelithiasis Splenomegaly Hemolytic anemia Hyperbilirubinemia
Cholecystectomy, Laparoscopic Homo sapiens Hyperbilirubinemia Male Middle Aged Spleen
15
(58.6%)
8471774
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.
Splenomegaly Hemolytic anemia Spherocytosis
EPB42 GAPDH
c|SUB|G|232|A p|SUB|E|40|K rs45562031
Adult Anemia, Hemolytic Anion Exchange Protein 1, Erythrocyte Base Sequence Blood Proteins Cytoskeletal Proteins DNA Erythrocyte Deformability Erythrocyte Membrane Females Glyceraldehyde-3-Phosphate Dehydrogenases Homo sapiens Homozygote Membrane Proteins Molecular Sequence Data Peptide Fragments Pregnancy Spherocytes Splenomegaly
16
(57.9%)
9595784
[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.
Splenomegaly Spherocytosis
Adult Females Homo sapiens Laparoscopy Male Splenectomy Splenomegaly Video Recording
16
(57.9%)
7967056
[Hereditary spherocytosis associated with non-Hodgkin's lymphoma in the spleen].
Arisawa K, Morita S, Kojima H, Inui A, Yoshino G, Hayashi Y, Kasuga M.
Rinsho Ketsueki. 1994;35(9):871-5.
Splenomegaly Spherocytosis
DDIT3
Antineoplastic Combined Chemotherapy Protocols Females Homo sapiens Lymphoma, Follicular Middle Aged Splenic Neoplasms
16
(57.9%)
448868
Hereditary spherocytosis with normal osmotic fragility after incubation. Is the autohemolysis test really obsolete?
Fukagawa N, Friedman S, Gill FM, Schwartz E, Shaller C.
JAMA. 1979;242(1):63-4.
Splenomegaly Reticulocytosis Spherocytosis
Child Child, Preschool Erythrocyte Membrane Erythrocytes Homo sapiens Male
19
(56.4%)
27566068
(5002123)
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.
Jaundice Splenomegaly Hemolytic anemia
Aortic Aneurysm Aortic Valve Insufficiency Cardiopulmonary Bypass Homo sapiens Male Middle Aged
19
(56.4%)
27108201
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.
Jaundice Splenomegaly Hemolytic anemia
G6PD
Adult Females Homo sapiens Male Mutation Sequence Deletion alpha-Thalassemia
        

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