Hematology and Oncology Book


Hereditary Spherocytosis

Aka: Hereditary Spherocytosis, Minkowski-Chauffard syndrome
  1. Pathophysiology
    1. Most common inherited membranopathy
    2. Results from membrane Protein gene mutations
    3. Autosomal Dominant
  2. Labs: Initial
    1. Complete Blood Count
      1. Anemia
      2. Mean Corpuscular Hemoglobin (MCH) to Mean Corpuscular Volume (MCV) ratio >0.35
    2. Direct Antibody Test (Direct Coombs Test)
      1. Negative
    3. Peripheral Blood Smear
      1. Spherocytes
  3. Labs: Confirmation
    1. Osmotic Fragility
    2. Eosin-5-Maleimide Binding
  4. Management
    1. Splenectomy
      1. Indicated in moderate to severe cases
  5. Complications
    1. Hemolytic Anemia
  6. References
    1. Phillips (2018) Am Fam Physician 98(6): 354-61 [PubMed]

Hereditary spherocytosis (C0037889)

Definition (MSH) A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.
Definition (NCI) An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly.
Definition (CSP) autosomal dominant trait marked by splenomegaly, jaundice, and fragile, spheroid erythrocytes which are prematurely cleared by the spleen; anemia is usually mild; treatment is splenectomy.
Concepts Disease or Syndrome (T047)
MSH D013103
ICD9 282.0
ICD10 D58.0
SnomedCT 154795009, 55995005
English Hereditary Spherocytoses, Spherocytoses, Hereditary, Spherocytosis, Hereditary, ANAEMIA SPHEROCYTIC, ANEMIA SPHEROCYTIC, Hereditary spherocytosis, Minkowski Chauffard syndrome, hereditary spherocytosis (diagnosis), hereditary spherocytosis, hereditary hemolytic spherocytosis, Anaemia spherocytic, Spherocytic anaemia, Anemia spherocytic, Spherocytic anemia, Acholuric (familial) jaundice, Minkowski-Chauffard syndrome, Spherocytosis, Hereditary [Disease/Finding], congenital spherocytosis, spherocytosis hereditary, spherocytic anemia, spherocytic hemolytic anemia, familial spherocytosis, Hereditary Spherocytosis, Familial spherocytosis, Congenital spherocytosis, Congenital spherocytic hemolytic anemia, Familial acholuric jaundice, Minkowsky-Chauffard syndrome, HS - Hereditary spherocytosis, Congenital spherocytic haemolytic anaemia, Hereditary spherocytosis (disorder), Minkowski-Chauffard, spherocytic; anemia, anemia; spherocytic, Hereditary spherocytosis, NOS
Italian Anemia sferocitica, Sferocitosi ereditaria
Dutch anemie sferocytair, sferocytische anemie, anemie; sferocytair, sferocytair; anemie, sferocytaire anemie, sferocytose, erfelijk, Hereditaire sferocytose, Sferocytose, hereditaire
French Anémie sphérocytique, ANEMIE SPHEROCYTAIRE, Anémie sphérocytaire, Microsphérocytose héréditaire, Sphérocytose héréditaire, Maladie de Minkowski-Chauffard, Ictère hémolytique congénital
Japanese 球状赤血球性貧血, キュウジョウセッケッキュウセイヒンケツ, イデンセイキュウジョウセッケッキュウショウ, ミンコフスキー・ショファー症候群, Minkowski-Chauffard症候群, 球状赤血球症-遺伝性, 先天性溶血性黄疸, 家族性溶血性黄疸, 遺伝性球状赤血球症, 黄疸-先天性溶血性, 黄疸-家族性溶血性, ミンコフスキー-ショファー症候群, 溶血性黄疸-先天性, 溶血性黄疸-家族性
Swedish Sfärocytos, ärftlig
Czech sférocytóza dědičná, Sférocytová anémie, Anémie sférocytová, Dědičná sférocytóza
Finnish Perinnöllinen pallosoluisuus
German ANAEMIE KUGELZELL, Hereditaere Sphaerozytose, Sphaerozytose hereditaer, Sphaerozytose, Minkowski-Chauffard-Krankheit, Kugelzellanämie, Sphärozytose, hereditäre
Portuguese ANEMIA ESFEROCITICA, Anemia esferocítica, Esferocitose hereditária, Esferocitose Hereditária
Spanish ANEMIA ESFEROCITICA, anemia hemolítica esferocítica congénita, esferocitosis congénita, esferocitosis familiar, esferocitosis hereditaria (trastorno), esferocitosis hereditaria, ictericia acolúrica familiar, síndrome de Minkowsky - Chauffard, Esferocitosis hereditaria, Anemia esferocítica, Esferocitosis Hereditaria
Korean 유전성 구상적혈구증
Polish Sferocytoza wrodzona
Hungarian Öröklött spherocytosis, spherocytás anaemia, spherocytaer anaemia, anaemia spherocytica, Spherocytás anaemia
Norwegian Arvelig sfærocytose, Hereditær sfærocytose, Sfærocytose, hereditær
Derived from the NIH UMLS (Unified Medical Language System)

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