iPedia Free Information Center

Information about Hereditary Spherocytosis

This article is about aspects of spherocytosis specific to the hereditary form of the disorder. For details that apply generally to this variant as well as others, see Spherocytosis.


Hereditary spherocytosis
Classification & external resources
ICD-10D58.0
ICD-9282.0


Hereditary spherocytosis is a genetically-transmitted form of spherocytosis, an auto-hemolytic anemia characterized by the production of red blood cells that are sphere-shaped rather than donut-shaped, and therefore more prone to hemolysis.

Symptoms

For more details on this topic, see Spherocytosis#Symptoms.


As in non-hereditary spherocytosis, the spleen's hemolysis results in observational symptoms of fatigue, pallor, and jaundice.

Diagnosis

For more details on this topic, see Spherocytosis#Diagnosis.


In a peripheral blood smear, the abnormally small red blood cells lacking the central pallor as seen in non-hereditary spherocytosis is typically more marked in hereditary spherocytosis.

Other protein deficiencies cause hereditary elliptocytosis, pyropoikilocytosis or stomatocytosis.

In longstanding cases and in patients who have taken iron supplementation or received numerous blood transfusions, iron overload may be a significant problem, being a potential cause of cardiomyopathy and liver disease. Measuring iron stores is therefore considered part of the diagnostic approach to hereditary spherocytosis.

Pathophysiology

Hereditary spherocytosis is an autosomal dominant trait, most commonly (though not exclusively) found in Northern European and Japanese families, although an estimated 25% of cases are due to spontaneous mutations. A patient has a 50% chance of passing the disorder onto his/her offspring, presuming that his/her partner does not also carry the mutation.

Hereditary spherocytosis is caused by a variety of molecular defects in the genes that code for spectrin, ankyrin, protein 4.1, and other erythrocyte membrane proteins. These proteins are necessary to maintain the normal shape of an erythrocyte, which is a biconcave disk. The protein that is most commonly defective is ankyrin. As the spleen normally targets abnormally shaped red cells (which are typically older), it also destroys spherocytes.

Treatment

For more details on this topic, see Spherocytosis#Treatment.


As in non-hereditary spherocytosis, acute symptoms of anemia and hyperbilirubinemia indicate treatment with blood transfusions or exchanges and chronic symptoms of anemia and splenomegaly indicate dietary supplementation of iron and splenectomy, the surgical removal of the spleen.

Experimental gene therapy exists to treat hereditary spherocytosis in lab mice; however, this treatment has not yet been tried on humans and because of the risks involved in human gene therapy, it may never be.

Prevalence

It is the most common (1 in 5,000 of Northern European ancestry) disorder of the red cell membrane.

See also

External links

References

  • Kumar, Vinay, Abul Abbas, and Nelson Fausto. "Robbins and Cotran Pathologic Basis of Disease, 7th edition (2004)."
  • Schneider, Arthur S. and Philip A. Stanzo. "Board Review Series: Pathology, 2nd edition (2002)."
 •  • [ e]
Pathology: hematology (primarily /, /)
WBCshematological malignancy (Lymphoma, leukemia)
-cytosis (Agranulocytosis, Leukocytosis, Lymphocytosis, Monocytosis) • -penia (Lymphopenia, Neutropenia)
RBCs/anemia/
hemoglobinopathy		nutritional anemia: Iron deficiency anemia, Plummer-Vinson syndrome, Megaloblastic anemia (Pernicious anemia)
hereditary hemolytic anemia: G6PD Deficiency, Thalassemia, Sickle-cell disease/trait, Hereditary spherocytosis, Hereditary elliptocytosis, Hereditary stomatocytosis
acquired hemolytic anemia: Warm autoimmune hemolytic anemia, HUS, MAHA, PNH
aplastic anemia: Acquired PRCA, Diamond-Blackfan anemia, Fanconi anemia • Sideroblastic anemia • Hemochromatosis
Coagulation/plateletscoagulopathy: DIC • Hemophilia (A, B, C, XIII) • Von Willebrand disease
Purpura: Henoch-Schnlein, ITP, TTP
primary hypercoagulable state: Protein C deficiency - Protein S deficiency - Antithrombin III deficiency
other hemorrhagic conditions: Bernard-Soulier syndrome - Glanzmann's thrombasthenia - Grey platelet syndrome
HistiocytosisWHO-I Langerhans cell histiocytosis - non-Langerhans-cell histiocytosis/WHO-II (Juvenile xanthogranuloma, Hemophagocytic lymphohistiocytosis) - malignant histiocytic disorders/WHO-III (Acute monocytic leukemia, Malignant histiocytosis, Erdheim-Chester disease)
OtherAsplenia/hyposplenism - Methemoglobinemia
Spherocytosis
Classification & external resources

ICD-10 D58.0
ICD-9 282.0

Spherocytosis is an auto-hemolytic anemia (a disease of the blood) characterized by the production of red blood cells (RBCs), or erythrocytes
..... Click the link for more information.
For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
..... Click the link for more information.
List of ICD-10 codes. The version for 2007 is available online at [1]

Chapter Blocks Title
I Certain infectious and parasitic diseases
II Neoplasms
III Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
..... Click the link for more information.
For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
..... Click the link for more information.
The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. These codes are in the public domain.

See also


..... Click the link for more information.
Spherocytosis
Classification & external resources

ICD-10 D58.0
ICD-9 282.0

Spherocytosis is an auto-hemolytic anemia (a disease of the blood) characterized by the production of red blood cells (RBCs), or erythrocytes
..... Click the link for more information.
Hemolysis. Red blood cells with (right) and without (left and middle) hemolysis.]] Hemolysis (or haemolysis)—from the Latin Hemo-, Greek Αἷμα meaning blood, -lysis
..... Click the link for more information.
Anemia
Classification & external resources

ICD-10 D 50. -D 64.
ICD-9 280 - 285

DiseasesDB 663
MedlinePlus 000560
eMedicine med/132   emerg/808 emerg/734
MeSH D000740

Anemia (AmE) or anæmia/anaemia
..... Click the link for more information.
Hemolysis. Red blood cells with (right) and without (left and middle) hemolysis.]] Hemolysis (or haemolysis)—from the Latin Hemo-, Greek Αἷμα meaning blood, -lysis
..... Click the link for more information.
Spherocytosis
Classification & external resources

ICD-10 D58.0
ICD-9 282.0

Spherocytosis is an auto-hemolytic anemia (a disease of the blood) characterized by the production of red blood cells (RBCs), or erythrocytes
..... Click the link for more information.
The spleen is an organ located in the abdomen of the human body, where it functions in the destruction of old red blood cells and holding a small reservoir of blood. It is regarded as one of the centers of activity of the reticuloendothelial system (part of the immune system).
..... Click the link for more information.
Hemolysis. Red blood cells with (right) and without (left and middle) hemolysis.]] Hemolysis (or haemolysis)—from the Latin Hemo-, Greek Αἷμα meaning blood, -lysis
..... Click the link for more information.
Fatigue
Classifications and external resources

ICD-10 R 53.
ICD-9 780.7

DiseasesDB 30079
MedlinePlus 003088

MeSH D005221 The word fatigue
..... Click the link for more information.
Pallor
Classifications and external resources

ICD-10 R 23.1
ICD-9 782.61

Pallor is a reduced amount of oxyhemoglobin in skin or mucous membrane, a pale color which can be caused by illness, emotional shock or stress, avoiding excessive exposure
..... Click the link for more information.
Jaundice, NOS
Classification & external resources

Yellowing of the skin and sclera caused by Hepatitis A.
ICD-10 R 17.
ICD-9 782.4

DiseasesDB 7038
MedlinePlus 003243

MeSH D007565

Jaundice, also known as icterus
..... Click the link for more information.
A blood film or peripheral blood smear is a slide made from a drop of blood, that allows the cells to be examined microscopically. Blood films are usually done to investigate hematological problems (disorders of the blood itself) and, occasionally, to look for
..... Click the link for more information.
Red blood cells are the most common type of blood cell and the vertebrate body's principal means of delivering oxygen from the lungs or gills to body tissues via the blood.
..... Click the link for more information.
Spherocytosis
Classification & external resources

ICD-10 D58.0
ICD-9 282.0

Spherocytosis is an auto-hemolytic anemia (a disease of the blood) characterized by the production of red blood cells (RBCs), or erythrocytes
..... Click the link for more information.
Hereditary elliptocytosis
Classification & external resources

Blood smear showing elliptocytes
ICD-10 D 58.1
ICD-9 282.1

DiseasesDB .htm 4172

eMedicine ped/987   med/648

Hereditary elliptocytosis
..... Click the link for more information.
Hereditary pyropoikilocytosis (HPP) is a hemolytic anemia characterized by an abnormal sensitivity of red blood cells to heat and erythrocyte morphology similar to that seen in thermal burns.
..... Click the link for more information.
Hereditary stomatocytosis describes a number of inherited autosomal dominant human conditions which affect the red blood cell, in which the membrane or outer coating of the cell 'leaks' sodium and potassium ions.
..... Click the link for more information.
3, 4, 6
(amphoteric oxide)
Electronegativity 1.83 (Pauling scale)
Ionization energies
(more) 1st: 762.5 kJmol−1
2nd: 1561.9 kJmol−1
3rd: 2957 kJmol−1

Atomic radius 140 pm
Atomic radius (calc.
..... Click the link for more information.
Blood transfusion is the process of transferring blood or blood-based products from one person into the circulatory system of another. Blood transfusions can be life-saving in some situations, such as massive blood loss due to trauma, or can be used to replace blood lost during
..... Click the link for more information.
Iron overload disorder
Classifications and external resources

ICD-10 R 79.0
ICD-9 790.6

In medicine, iron overload disorders are diseases caused by the accumulation of iron in the body.
..... Click the link for more information.
MeSH D009202 Cardiomyopathy, which literally means "heart muscle disease", is the deterioration of the function of the myocardium (i.e., the actual heart muscle) for any reason. People with cardiomyopathy are often at risk of arrhythmia or sudden cardiac death or both.
..... Click the link for more information.
dominance relationship refers to how the alleles for a locus interact to produce a phenotype.

There are three main kinds of dominance relationships:
  • Simple dominance or complete dominance (simple Mendelian inheritance) over a recessive trait

..... Click the link for more information.
mutations are changes to the base pair sequence of the genetic material of an organism. Mutations can be caused by copying errors in the genetic material during cell division, by exposure to ultraviolet or ionizing radiation, chemical mutagens, or viruses, or can occur deliberately
..... Click the link for more information.
Spectrin is a cytoskeletal protein that lines the intracellular side of the plasma membrane of many cell types in pentagonal or hexagonal arrangements, forming a scaffolding and playing an important role in maintenance of plasma membrane integrity and cytoskeletal structure.
..... Click the link for more information.
Identifiers
Symbol ANK2
Alt. Symbols LQT4

Entrez 287
HUGO 493
OMIM 106410

RefSeq NM_001148
UniProt Q01484
Other data

Locus Chr.
..... Click the link for more information.
Band 4.1 is a protein associated with the cytoskeleton of the red blood cell.

See also

  • elliptocytosis

External links

  • MeSH erythrocyte+membrane+band+4.1+protein

..... Click the link for more information.


This article is copied from an article on Wikipedia.org - the free encyclopedia created and edited by online user community. The text was not checked or edited by anyone on our staff. Although the vast majority of the wikipedia encyclopedia articles provide accurate and timely information please do not assume the accuracy of any particular article. This article is distributed under the terms of GNU Free Documentation License.
Herod_Archelaus


page counter