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Hb SS disease(SCD)

MedGen UID:
287
Concept ID:
C0002895
Disease or Syndrome
Synonyms: HbS disease; Hemoglobin S Disease; Hemoglobin SS; SCD; Sickle cell anemia; Sickle cell disease; Sickling disorder due to hemoglobin S
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
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 (location): HBB (11p15.4)
OMIM®: 603903
Orphanet: ORPHA232

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.” The spleen is 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 may be relatively protected from vaso-occlusive pain. [from GeneReviews]
Authors:
MA Bender  |  Gabrielle Douthitt Seibel   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). See review of infection in sickle cell disease by Booth 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.  https://ghr.nlm.nih.gov/condition/sickle-cell-disease

Clinical features

Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
Increased size of the heart.
Retinopathy
MedGen UID:
11209
Concept ID:
C0035309
Disease or Syndrome
The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. In the center of this nerve tissue is the macula. It provides the sharp, central vision needed for reading, driving and seeing fine detail. Retinal disorders affect this vital tissue. They can affect your vision, and some can be serious enough to cause blindness. Examples are. -Macular degeneration - a disease that destroys your sharp, central vision. -Diabetic eye disease. -Retinal detachment - a medical emergency, when the retina is pulled away from the back of the eye. -Retinoblastoma - cancer of the retina. It is most common in young children. -Macular pucker - scar tissue on the macula. -Macular hole - a small break in the macula that usually happens to people over 60. -Floaters - cobwebs or specks in your field of vision. NIH: National Eye Institute.
Congenital dyserythropoietic anemia
MedGen UID:
8064
Concept ID:
C0002876
Disease or Syndrome
A type of hypoplastic anemia with congenital onset.
Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Polycythaemia
MedGen UID:
18552
Concept ID:
C0032461
Disease or Syndrome
Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.
Microcytic anemia
MedGen UID:
39081
Concept ID:
C0085576
Disease or Syndrome
Finberg et al. (2008) referred to this phenotype as iron-refractory iron deficiency anemia (IRIDA) and reviewed the key features: a congenital hypochromic, microcytic anemia; a very low mean corpuscular erythrocyte volume; a low transferrin saturation; abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron; and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron. The authors noted that although urinary levels of hepcidin (606464) are typically undetectable in individuals with iron deficiency, in 5 individuals with IRIDA urinary hepcidin/creatinine ratios were within or above the normal range.
Persistence of hemoglobin F
MedGen UID:
68693
Concept ID:
C0239941
Finding
Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.
Heinz body anemia
MedGen UID:
148583
Concept ID:
C0700299
Disease or Syndrome
Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.
Increased red cell sickling tendency
MedGen UID:
870257
Concept ID:
C4024695
Finding
Macrocytic hemolytic disease
MedGen UID:
870731
Concept ID:
C4025185
Disease or Syndrome
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Priapism
MedGen UID:
19462
Concept ID:
C0033117
Disease or Syndrome
A prolonged painful erection that may lasts hours and is not associated with sexual activity. It is seen in patients with SICKLE CELL ANEMIA, advanced malignancy, spinal trauma; and certain drug treatments.
Impaired renal concentrating ability
MedGen UID:
395351
Concept ID:
C1859819
Finding
A defect in the ability to concentrate the urine.
Cyanosis
MedGen UID:
1189
Concept ID:
C0010520
Sign or Symptom
A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule.
Cholelithiasis
MedGen UID:
3039
Concept ID:
C0008350
Disease or Syndrome
Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Your gallbladder is most likely to give you trouble if something blocks the flow of bile through the bile ducts. That is usually a gallstone. Gallstones form when substances in bile harden. Gallstone attacks usually happen after you eat. Signs of a gallstone attack may include nausea, vomiting, or pain in the abdomen, back, or just under the right arm. Gallstones are most common among older adults, women, overweight people, Native Americans and Mexican Americans. The most common treatment is removal of the gallbladder. Fortunately, the gallbladder is an organ that you can live without. Bile has other ways to reach your small intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Sign or Symptom
Enlargement of the liver.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Pathologic Function
Jaundice causes your skin and the whites of your eyes to turn yellow. Too much bilirubin causes jaundice. Bilirubin is a yellow chemical in hemoglobin, the substance that carries oxygen in your red blood cells. As red blood cells break down, your body builds new cells to replace them. The old ones are processed by the liver. If the liver cannot handle the blood cells as they break down, bilirubin builds up in the body and your skin may look yellow. . Many healthy babies have some jaundice during the first week of life. It usually goes away. However, jaundice can happen at any age and may be a sign of a problem. Jaundice can happen for many reasons, such as. - Blood diseases. - Genetic syndromes. - Liver diseases, such as hepatitis or cirrhosis. - Blockage of bile ducts . - Infections . - Medicines .
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Osteomyelitis
MedGen UID:
10497
Concept ID:
C0029443
Disease or Syndrome
An infection of bone.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Hematuria
MedGen UID:
5488
Concept ID:
C0018965
Finding
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Osteochondrosis
MedGen UID:
18216
Concept ID:
C0029429
Disease or Syndrome
A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.
Osteomyelitis
MedGen UID:
10497
Concept ID:
C0029443
Disease or Syndrome
An infection of bone.
Cyanosis
MedGen UID:
1189
Concept ID:
C0010520
Sign or Symptom
A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Pathologic Function
Jaundice causes your skin and the whites of your eyes to turn yellow. Too much bilirubin causes jaundice. Bilirubin is a yellow chemical in hemoglobin, the substance that carries oxygen in your red blood cells. As red blood cells break down, your body builds new cells to replace them. The old ones are processed by the liver. If the liver cannot handle the blood cells as they break down, bilirubin builds up in the body and your skin may look yellow. . Many healthy babies have some jaundice during the first week of life. It usually goes away. However, jaundice can happen at any age and may be a sign of a problem. Jaundice can happen for many reasons, such as. - Blood diseases. - Genetic syndromes. - Liver diseases, such as hepatitis or cirrhosis. - Blockage of bile ducts . - Infections . - Medicines .

Professional guidelines

PubMed

Traeger-Synodinos J, Harteveld CL, Old JM, Petrou M, Galanello R, Giordano P, Angastioniotis M, De la Salle B, Henderson S, May A; EMQN haemoglobinopathies best practice meeting
Eur J Hum Genet 2015 Apr;23(4):426-37. Epub 2014 Jul 23 doi: 10.1038/ejhg.2014.131. [Epub ahead of print] PMID: 25052315Free PMC Article
Meschia JF, Bushnell C, Boden-Albala B, Braun LT, Bravata DM, Chaturvedi S, Creager MA, Eckel RH, Elkind MS, Fornage M, Goldstein LB, Greenberg SM, Horvath SE, Iadecola C, Jauch EC, Moore WS, Wilson JA; American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; Council on Functional Genomics and Translational Biology; Council on Hypertension
Stroke 2014 Dec;45(12):3754-832. Epub 2014 Oct 28 doi: 10.1161/STR.0000000000000046. [Epub ahead of print] PMID: 25355838
Yawn BP, Buchanan GR, Afenyi-Annan AN, Ballas SK, Hassell KL, James AH, Jordan L, Lanzkron SM, Lottenberg R, Savage WJ, Tanabe PJ, Ware RE, Murad MH, Goldsmith JC, Ortiz E, Fulwood R, Horton A, John-Sowah J
JAMA 2014 Sep 10;312(10):1033-48. doi: 10.1001/jama.2014.10517. PMID: 25203083
Lin KW
Am Fam Physician 2009 Mar 15;79(6):507-8. PMID: 19323364
Genet Med 2006 May;8 Suppl 1:1S-252S. doi: 10.1097/01.gim.0000223891.82390.ad. PMID: 16783161Free PMC Article
Int J Gynaecol Obstet 1996 May;53(2):184-94. PMID: 8735302

External

American College of Medical Genetics ACT SHEET, Sickle Cell Anemia, 2010

American College of Medical Genetics Algorithm, Hb S Screening, 2009

Recent clinical studies

Etiology

Oleske DA, Huang RS, Dasgupta A, Nguyen A, Wahed A
Ann Clin Lab Sci 2014 Summer;44(3):291-3. PMID: 25117100
Allareddy V, Roy A, Lee MK, Nalliah RP, Rampa S, Allareddy V, Rotta AT
PLoS One 2014;9(4):e94387. Epub 2014 Apr 16 doi: 10.1371/journal.pone.0094387. PMID: 24740290Free PMC Article
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

Diagnosis

Oleske DA, Huang RS, Dasgupta A, Nguyen A, Wahed A
Ann Clin Lab Sci 2014 Summer;44(3):291-3. PMID: 25117100
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

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

Allareddy V, Roy A, Lee MK, Nalliah RP, Rampa S, Allareddy V, Rotta AT
PLoS One 2014;9(4):e94387. Epub 2014 Apr 16 doi: 10.1371/journal.pone.0094387. PMID: 24740290Free PMC Article
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
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

Allareddy V, Roy A, Lee MK, Nalliah RP, Rampa S, Allareddy V, Rotta AT
PLoS One 2014;9(4):e94387. Epub 2014 Apr 16 doi: 10.1371/journal.pone.0094387. PMID: 24740290Free PMC Article
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
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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