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Hb SS disease

MedGen UID:
287
Concept ID:
C0002895
Disease or Syndrome
Synonyms: Anemia, Sickle Cell; HbS disease; Hemoglobin S Disease; Hemoglobin SS; Sickle cell anemia; Sickle cell disease; Sickle cell disorders; Sickling disorder due to hemoglobin S
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Sickle cell disease (127040003); Hemoglobin S-S disease (127040003); Drepanocythemia (127040003); Hb SS disease (127040003); Sickling disorder due to hemoglobin S (417357006); Sickle cell disease (417357006); Sickle cell syndrome (417357006); Hereditary hemoglobinopathy disorder homozygous for hemoglobin S (127040003); Sickle cell anemia (127040003); Hemoglobin S disease (127040003); Hb S disease (127040003); Sickle cell syndrome (127040003)
 
Gene: HBB
Cytogenetic location: 11p15.4
OMIM: 603903

Disease characteristics

Excerpted from the GeneReview: Sickle Cell Disease
Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ in the body, including the bones, lungs, liver, kidneys, brain, eyes, and joints. Dactylitis (pain and/or swelling of the hands or feet) in infants and young children is often the earliest manifestation of sickle cell disease. In children the spleen can become engorged with blood cells in a “splenic sequestration crisis.” The spleen is also particularly subject to infarction and the majority of individuals with SCD are functionally asplenic in early childhood, increasing their risk for certain types of bacterial infections. Chronic hemolysis can result in varying degrees of anemia, jaundice, cholelithiasis, and delayed growth and sexual maturation. Individuals with the highest rates of hemolysis are predisposed to pulmonary artery hypertension, priapism, and leg ulcers but are relatively protected from vaso-occlusive pain.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
MA Bender  |  William Hobbs   view full author information

Additional descriptions

From OMIM
Sickle cell anemia is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vasoocclusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established. The most common cause of sickle cell anemia is the HbS variant (141900.0243), with hemoglobin SS disease being most prevalent in Africans (review by Rees et al., 2010).  http://www.omim.org/entry/603903
From GHR
Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic features of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. The severity of symptoms varies from person to person. Some people have mild symptoms, while others are frequently hospitalized for more serious complications. The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. When red blood cells sickle, they break down prematurely, which can lead to anemia. Anemia can cause shortness of breath, fatigue, and delayed growth and development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice. Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. These episodes deprive tissues and organs of oxygen-rich blood and can lead to organ damage, especially in the lungs, kidneys, spleen, and brain. A particularly serious complication of sickle cell disease is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Pulmonary hypertension occurs in about one-third of adults with sickle cell disease and can lead to heart failure.  http://ghr.nlm.nih.gov/condition/sickle-cell-disease

Clinical features

Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Priapism
MedGen UID:
506554
Concept ID:
CN117764
Finding
A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours.
Retinopathy
MedGen UID:
427824
Concept ID:
CN000456
Finding
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Jaundice
MedGen UID:
427849
Concept ID:
CN000891
Finding
Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Cholelithiasis
MedGen UID:
504715
Concept ID:
CN001014
Finding
Hard, pebble-like deposits that form within the `gallbladder` (FMA:7202).
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally `increased size` (PATO:0000586) of the `liver` (FMA:7197).
Jaundice
MedGen UID:
427849
Concept ID:
CN000891
Finding
Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
hypertrophy or enlargement of the heart.
Hemolytic anemia
MedGen UID:
504983
Concept ID:
CN001698
Finding
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
A disorder characterized by laboratory test results that indicate blood in the urine.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.

Recent clinical studies

Etiology

Lagunju IA, Brown BJ
Int J Hematol 2012 Dec;96(6):710-8. Epub 2012 Nov 6 doi: 10.1007/s12185-012-1204-9. [Epub ahead of print] PMID: 23129067
Lagunju I, Sodeinde O, Telfer P
Am J Hematol 2012 May;87(5):544-7. Epub 2012 Mar 28 doi: 10.1002/ajh.23152. [Epub ahead of print] PMID: 22460323
King L, MooSang M, Miller M, Reid M
Arch Dis Child 2011 Dec;96(12):1135-9. Epub 2011 Sep 30 doi: 10.1136/archdischild-2011-300628. [Epub ahead of print] PMID: 21965808
Gorman MJ, Nyström K, Carbonella J, Pearson H
Neurology 2009 Aug 4;73(5):362-5. Epub 2009 Jun 24 doi: 10.1212/WNL.0b013e3181ae2361. [Epub ahead of print] PMID: 19553593
Kelleher JF Jr, Park JO, Kim HC, Schroeder WA
Hemoglobin 1984;8(3):203-13. PMID: 6547933

Diagnosis

Lagunju IA, Brown BJ
Int J Hematol 2012 Dec;96(6):710-8. Epub 2012 Nov 6 doi: 10.1007/s12185-012-1204-9. [Epub ahead of print] PMID: 23129067
Sherer DM, Dalloul M, Salameh G, Abulafia O
Obstet Gynecol 2009 Aug;114(2 Pt 2):471-2. doi: 10.1097/AOG.0b013e3181ac4e18. PMID: 19622965
Gorman MJ, Nyström K, Carbonella J, Pearson H
Neurology 2009 Aug 4;73(5):362-5. Epub 2009 Jun 24 doi: 10.1212/WNL.0b013e3181ae2361. [Epub ahead of print] PMID: 19553593
King L, Fraser R, Forbes M, Grindley M, Ali S, Reid M
J Med Screen 2007;14(3):117-22. doi: 10.1258/096914107782066185. PMID: 17925083
Fatunde OJ, Sodeinde O, Familusi JB
Afr J Med Med Sci 2000 Sep-Dec;29(3-4):227-8. PMID: 11713995

Therapy

Markham MJ, Lottenberg R, Zumberg M
Am J Hematol 2003 Jun;73(2):121-5. doi: 10.1002/ajh.10328. PMID: 12749014
Fatunde OJ, Sodeinde O, Familusi JB
Afr J Med Med Sci 2000 Sep-Dec;29(3-4):227-8. PMID: 11713995
Baker DL, Manno CS
Am J Hematol 1988 Dec;29(4):230-2. PMID: 3189321
Bertles JF, Milner PF
J Clin Invest 1968 Aug;47(8):1731-41. doi: 10.1172/JCI105863. PMID: 5666109Free PMC Article

Prognosis

Lagunju IA, Brown BJ
Int J Hematol 2012 Dec;96(6):710-8. Epub 2012 Nov 6 doi: 10.1007/s12185-012-1204-9. [Epub ahead of print] PMID: 23129067
King L, MooSang M, Miller M, Reid M
Arch Dis Child 2011 Dec;96(12):1135-9. Epub 2011 Sep 30 doi: 10.1136/archdischild-2011-300628. [Epub ahead of print] PMID: 21965808
Gorman MJ, Nyström K, Carbonella J, Pearson H
Neurology 2009 Aug 4;73(5):362-5. Epub 2009 Jun 24 doi: 10.1212/WNL.0b013e3181ae2361. [Epub ahead of print] PMID: 19553593
Markham MJ, Lottenberg R, Zumberg M
Am J Hematol 2003 Jun;73(2):121-5. doi: 10.1002/ajh.10328. PMID: 12749014
Bertles JF, Milner PF
J Clin Invest 1968 Aug;47(8):1731-41. doi: 10.1172/JCI105863. PMID: 5666109Free PMC Article

Clinical prediction guides

King L, MooSang M, Miller M, Reid M
Arch Dis Child 2011 Dec;96(12):1135-9. Epub 2011 Sep 30 doi: 10.1136/archdischild-2011-300628. [Epub ahead of print] PMID: 21965808
Gorman MJ, Nyström K, Carbonella J, Pearson H
Neurology 2009 Aug 4;73(5):362-5. Epub 2009 Jun 24 doi: 10.1212/WNL.0b013e3181ae2361. [Epub ahead of print] PMID: 19553593
Westerman MP, Green D, Gilman-Sachs A, Beaman K, Freels S, Boggio L, Allen S, Schlegel R, Williamson P
Am J Hematol 2002 Feb;69(2):89-94. PMID: 11835343
Glader BE, Propper RD, Buchanan GR
Am J Clin Pathol 1979 Jul;72(1):63-4. PMID: 453112
Bertles JF, Milner PF
J Clin Invest 1968 Aug;47(8):1731-41. doi: 10.1172/JCI105863. PMID: 5666109Free PMC Article

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