Sickle cell disease

  • sickle cell disease
    other namessickle cell disorder
    sickle cell 01.jpg
    figure (a) shows normal red blood cells flowing freely through veins. the inset shows a cross section of a normal red blood cell with normal haemoglobin. figure (b) shows abnormal, sickled red blood cells sticking at the branching point in a vein. the inset image shows a cross-section of a sickle cell with long polymerized sickle haemoglobin (hbs) strands stretching and distorting the cell shape to look like a crescent.
    specialtyhematology
    symptomsattacks of pain, anemia, swelling in the hands and feet, bacterial infections, stroke[1]
    complicationschronic pain, stroke, aseptic bone necrosis, gallstones, leg ulcers, priapism, pulmonary hypertension, vision problems, kidney problems[2]
    usual onset5–6 months of age[1]
    causesgenetic[3]
    diagnostic methodblood test[4]
    treatmentvaccination, antibiotics, high fluid intake, folic acid supplementation. pain medication, blood transfusions[5][6]
    prognosislife expectancy 40–60 years (developed world)[2]
    frequency4.4 million (2015)[7]
    deaths114,800 (2015)[8]

    sickle cell disease (scd) is a group of blood disorders typically inherited from a person's parents.[2] the most common type is known as sickle cell anaemia (sca).[2] it results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells.[2] this leads to a rigid, sickle-like shape under certain circumstances.[2] problems in sickle cell disease typically begin around 5 to 6 months of age.[1] a number of health problems may develop, such as attacks of pain ("sickle cell crisis"), anemia, swelling in the hands and feet, bacterial infections and stroke.[1] long-term pain may develop as people get older.[2] the average life expectancy in the developed world is 40 to 60 years.[2]

    sickle cell disease occurs when a person inherits two abnormal copies of the β-globin gene that makes haemoglobin, one from each parent.[3] this gene occurs in chromosome 11.[9] several subtypes exist, depending on the exact mutation in each haemoglobin gene.[2] an attack can be set off by temperature changes, stress, dehydration, and high altitude.[1] a person with a single abnormal copy does not usually have symptoms and is said to have sickle cell trait.[3] such people are also referred to as carriers.[5] diagnosis is by a blood test, and some countries test all babies at birth for the disease.[4] diagnosis is also possible during pregnancy.[4]

    the care of people with sickle cell disease may include infection prevention with vaccination and antibiotics, high fluid intake, folic acid supplementation, and pain medication.[5][6] other measures may include blood transfusion and the medication hydroxycarbamide (hydroxyurea).[6] a small percentage of people can be cured by a transplant of bone marrow cells.[2]

    as of 2015, about 4.4 million people have sickle cell disease, while an additional 43 million have sickle cell trait.[7][10] about 80% of sickle cell disease cases are believed to occur in sub-saharan africa.[11] it also occurs relatively frequently in parts of india, the arabian peninsula, and among people of african origin living in other parts of the world.[12] in 2015, it resulted in about 114,800 deaths.[8] the condition was first described in the medical literature by american physician james b. herrick in 1910.[13][14] in 1949, its genetic transmission was determined by e. a. beet and j. v. neel.[14] in 1954, the protective effect against malaria of sickle cell trait was described.[14]

  • signs and symptoms
  • genetics
  • pathophysiology
  • diagnosis
  • management
  • prognosis
  • epidemiology
  • history
  • society and culture
  • research
  • notes
  • references
  • further reading
  • external links

Sickle cell disease
Other namesSickle cell disorder
Sickle cell 01.jpg
Figure (A) shows normal red blood cells flowing freely through veins. The inset shows a cross section of a normal red blood cell with normal haemoglobin. Figure (B) shows abnormal, sickled red blood cells sticking at the branching point in a vein. The inset image shows a cross-section of a sickle cell with long polymerized sickle haemoglobin (HbS) strands stretching and distorting the cell shape to look like a crescent.
SpecialtyHematology
SymptomsAttacks of pain, anemia, swelling in the hands and feet, bacterial infections, stroke[1]
ComplicationsChronic pain, stroke, aseptic bone necrosis, gallstones, leg ulcers, priapism, pulmonary hypertension, vision problems, kidney problems[2]
Usual onset5–6 months of age[1]
CausesGenetic[3]
Diagnostic methodBlood test[4]
TreatmentVaccination, antibiotics, high fluid intake, folic acid supplementation. pain medication, blood transfusions[5][6]
PrognosisLife expectancy 40–60 years (developed world)[2]
Frequency4.4 million (2015)[7]
Deaths114,800 (2015)[8]

Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents.[2] The most common type is known as sickle cell anaemia (SCA).[2] It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells.[2] This leads to a rigid, sickle-like shape under certain circumstances.[2] Problems in sickle cell disease typically begin around 5 to 6 months of age.[1] A number of health problems may develop, such as attacks of pain ("sickle cell crisis"), anemia, swelling in the hands and feet, bacterial infections and stroke.[1] Long-term pain may develop as people get older.[2] The average life expectancy in the developed world is 40 to 60 years.[2]

Sickle cell disease occurs when a person inherits two abnormal copies of the β-globin gene that makes haemoglobin, one from each parent.[3] This gene occurs in chromosome 11.[9] Several subtypes exist, depending on the exact mutation in each haemoglobin gene.[2] An attack can be set off by temperature changes, stress, dehydration, and high altitude.[1] A person with a single abnormal copy does not usually have symptoms and is said to have sickle cell trait.[3] Such people are also referred to as carriers.[5] Diagnosis is by a blood test, and some countries test all babies at birth for the disease.[4] Diagnosis is also possible during pregnancy.[4]

The care of people with sickle cell disease may include infection prevention with vaccination and antibiotics, high fluid intake, folic acid supplementation, and pain medication.[5][6] Other measures may include blood transfusion and the medication hydroxycarbamide (hydroxyurea).[6] A small percentage of people can be cured by a transplant of bone marrow cells.[2]

As of 2015, about 4.4 million people have sickle cell disease, while an additional 43 million have sickle cell trait.[7][10] About 80% of sickle cell disease cases are believed to occur in Sub-Saharan Africa.[11] It also occurs relatively frequently in parts of India, the Arabian Peninsula, and among people of African origin living in other parts of the world.[12] In 2015, it resulted in about 114,800 deaths.[8] The condition was first described in the medical literature by American physician James B. Herrick in 1910.[13][14] In 1949, its genetic transmission was determined by E. A. Beet and J. V. Neel.[14] In 1954, the protective effect against malaria of sickle cell trait was described.[14]

Other Languages
français: Drépanocytose
Bahasa Indonesia: Anemia sel sabit
Kirundi: Sickle-cell
Lingua Franca Nova: Anemia de selulas falxetin
मराठी: सिकलसेल
Nederlands: Sikkelcelanemie
norsk nynorsk: Sigdcelleanemi
Piemontèis: Anemìa faussiforma
português: Anemia falciforme
Simple English: Sickle-cell disease
српски / srpski: Српаста анемија
srpskohrvatski / српскохрватски: Srpasta anemija