Sideroblastic anemia (patient information): Difference between revisions
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==Overview== | ==Overview== | ||
Sideroblastic anaemia is a blood condition where body produces enough iron but is unable to put it into the haemoglobin. A sideroblast is a cell in which there is an abnormally large build up or iron. Sideroblastic anaemia is a rare disorder. Some forms of the condition are X-linked. Some forms, usually seen in adults, are acquired by exposure to alcohol, lead or drugs. | Sideroblastic anaemia is a blood condition where body produces enough [[iron]] but is unable to put it into the [[Hemoglobin|haemoglobin]]. A [[Sideroblastic anemia|sideroblast]] is a cell in which there is an abnormally large build up or [[iron]]. Sideroblastic anaemia is a rare disorder. Some forms of the condition are [[Sex linkage|X-linked]]. Some forms, usually seen in adults, are acquired by exposure to alcohol, [[lead]] or drugs. | ||
==What are the symptoms of Sideroblastic anemia?== | ==What are the symptoms of Sideroblastic anemia?== | ||
* Headache | * [[Headache]] | ||
* Weaknes | * [[Weakness (medical)|Weaknes]] | ||
* Fatigue | * [[Fatigue]] | ||
* Breathing difficulty | * [[Dyspnea|Breathing difficulty]] | ||
* Rapid pulse | * [[Tachycardia|Rapid pulse]] | ||
* Irritibility | * Irritibility | ||
* Chest pain | * [[Chest pain]] | ||
==What causes Sideroblastic anemia?== | ==What causes Sideroblastic anemia?== | ||
Sideroblastic anemia can be caused by heriditory or acquired factors. | Sideroblastic anemia can be caused by [[Congenital disorder|heriditory]] or [[Acquired disorder|acquired]] factors. | ||
Heriditory causes of sideroblastic anemia include | [[Congenital disorder|Heriditory]] causes of sideroblastic anemia include | ||
*Mutations in ALAS2, ABCB7, SCL19A2, GLRX5 and PSU1 genes. | *[[Mutation|Mutations]] in ALAS2, ABCB7, SCL19A2, GLRX5 and PSU1 genes. | ||
*Pearson syndrome | *[[Pearson syndrome]] | ||
*DIDMOAD syndrome | *DIDMOAD syndrome | ||
*Mitochondrial SLC25A38 | *Mitochondrial SLC25A38 | ||
*Erythropoietic protoporphyria | *[[Erythropoietic protoporphyria]] | ||
*Acquired causes of sideroblastic anemia include:[2][3] | *[[Acquired disorder|Acquired]] causes of sideroblastic anemia include:[2][3] | ||
*Myelodysplastic syndrome | *[[Myelodysplastic syndrome]] | ||
*Nutritional deficiencies (copper, vitamin B6) | *Nutritional deficiencies ([[copper]], [[vitamin B6]]) | ||
*Lead poisoning | *[[Lead poisoning]] | ||
*Zinc overdose | *[[Zinc|Zinc overdose]] | ||
*Alcohol | *[[Alcohol]] | ||
*Drugs (anti-tuberculous agents, antibiotics, progesterone, chelators, busulfan) | *Drugs [[Tuberculosis/Medical Therapy|(anti-tuberculous agents]], [[Antibiotic|antibiotics,]] [[progesterone]], [[Chelation|chelators]], [[busulfan]]) | ||
*Hypothermia | *[[Hypothermia]] | ||
==Who is at highest risk?== | ==Who is at highest risk?== | ||
* Common risk factors in the development of sideroblastic anemia are | * Common [[Risk factor|risk factors]] in the development of sideroblastic anemia are | ||
** Male gender (X-linked SA) | ** Male gender (X-linked SA) | ||
** Family history of hereditary SA | ** Family history of hereditary SA | ||
** Chronic alcohol abuse | ** Chronic [[Alcoholism|alcohol abuse]] | ||
** Lead toxicity | ** [[Lead|Lead toxicity]] | ||
** Drugs | ** Drugs | ||
**** Isoniazid | **** [[Isoniazid]] | ||
**** Pyrazinamide | **** [[Pyrazinamide]] | ||
**** Chloramphenicol | **** [[Chloramphenicol]] | ||
**** Cycloserine | **** [[Cycloserine]] | ||
**** Azathioprine | **** [[Azathioprine]] | ||
** Copper deficiency | ** [[Copper deficiency]] | ||
** Pyridoxine deficiency | ** [[Pyridoxine deficiency]] | ||
** Hypothermia affecting mitochondrial functions | ** [[Hypothermia]] affecting [[Mitochondrion|mitochondrial]] functions | ||
** High dose zinc | ** High dose zinc supplemets | ||
==Diagnosis== | ==Diagnosis== | ||
The diagnostic workup for sideroblastic include | The diagnostic workup for sideroblastic include | ||
* Blood work (complete blood count, peripheral smear, iron studies) | * Blood work ([[complete blood count]], [[peripheral smear]], [[Iron|iron studies]]) | ||
* Bone marrow aspiration. | * [[Bone marrow]] aspiration. | ||
==When to seek urgent medical care?== | ==When to seek urgent medical care?== | ||
You should go to urgent care immediatly if you experience: | You should go to urgent care immediatly if you experience: | ||
* Chest pain | * [[Chest pain]] | ||
* Difficulty breathing | * [[Dyspnea|Difficulty breathing]] | ||
* Severe abdominal pain | * Severe abdominal pain | ||
* Bleeding from gums or nose | * Bleeding from gums or nose | ||
* Extreme weakness | * Extreme weakness | ||
* Fever | * [[Fever]] | ||
==Treatment options== | ==Treatment options== | ||
* There are various drugs that are used to treat sideroblastic anaemia, including pyridoxine. | * There are various drugs that are used to treat sideroblastic anaemia, including [[pyridoxine]]. | ||
* Iron overload can be treated by deferoxamine. | * Iron overload can be treated by [[deferoxamine]]. | ||
* Blood transfusions are also used to treat the condition | * [[Blood transfusion|Blood transfusions]] are also used to treat the condition | ||
==Where to find medical care for Sideroblastic anemia?== | ==Where to find medical care for Sideroblastic anemia?== | ||
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** Nutritional supplements | ** Nutritional supplements | ||
** Pyridoxine prophylaxis with isoniazid | ** Pyridoxine prophylaxis with isoniazid | ||
** Prenatal genetic counseling in high risk pregnancies. | ** [[Prenatal]] [[genetic counseling]] in high risk pregnancies. | ||
==What to expect (Outlook/Prognosis)?== | ==What to expect (Outlook/Prognosis)?== | ||
The prognosis depends on the severity of the disease. Finding the cause is the main factor which determines the prognosis | The [[prognosis]] depends on the severity of the disease. Finding the cause is the main factor which determines the [[prognosis]] | ||
==Possible complications== | ==Possible complications== | ||
As sideroblastic anemia has a vast majority of causes the complications depends on the specific etiology | As sideroblastic anemia has a vast majority of causes the complications depends on the specific [[etiology]] | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 14:42, 13 August 2018
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Sideroblastic anemia |
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Sideroblastic anemia On the Web |
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anemia=Sideroblastic+anemia Ongoing Trials at Clinical Trials.gov |
Overview
Sideroblastic anaemia is a blood condition where body produces enough iron but is unable to put it into the haemoglobin. A sideroblast is a cell in which there is an abnormally large build up or iron. Sideroblastic anaemia is a rare disorder. Some forms of the condition are X-linked. Some forms, usually seen in adults, are acquired by exposure to alcohol, lead or drugs.
What are the symptoms of Sideroblastic anemia?
- Headache
- Weaknes
- Fatigue
- Breathing difficulty
- Rapid pulse
- Irritibility
- Chest pain
What causes Sideroblastic anemia?
Sideroblastic anemia can be caused by heriditory or acquired factors.
Heriditory causes of sideroblastic anemia include
- Mutations in ALAS2, ABCB7, SCL19A2, GLRX5 and PSU1 genes.
- Pearson syndrome
- DIDMOAD syndrome
- Mitochondrial SLC25A38
- Erythropoietic protoporphyria
- Acquired causes of sideroblastic anemia include:[2][3]
- Myelodysplastic syndrome
- Nutritional deficiencies (copper, vitamin B6)
- Lead poisoning
- Zinc overdose
- Alcohol
- Drugs (anti-tuberculous agents, antibiotics, progesterone, chelators, busulfan)
- Hypothermia
Who is at highest risk?
- Common risk factors in the development of sideroblastic anemia are
- Male gender (X-linked SA)
- Family history of hereditary SA
- Chronic alcohol abuse
- Lead toxicity
- Drugs
- Copper deficiency
- Pyridoxine deficiency
- Hypothermia affecting mitochondrial functions
- High dose zinc supplemets
Diagnosis
The diagnostic workup for sideroblastic include
- Blood work (complete blood count, peripheral smear, iron studies)
- Bone marrow aspiration.
When to seek urgent medical care?
You should go to urgent care immediatly if you experience:
- Chest pain
- Difficulty breathing
- Severe abdominal pain
- Bleeding from gums or nose
- Extreme weakness
- Fever
Treatment options
- There are various drugs that are used to treat sideroblastic anaemia, including pyridoxine.
- Iron overload can be treated by deferoxamine.
- Blood transfusions are also used to treat the condition
Where to find medical care for Sideroblastic anemia?
Where to find Medical Care for (Disease name)?
Medical care for (Sideroblastic anemia) can be found here.
Prevention
We can not prevent the heriditory sideroblastic anemia but we can take following measures to prevent acquired form of syderoblastic anemia.
- Refraining from alcohol
- Avoid excessive intake of zinc
- Nutritional supplements
- Pyridoxine prophylaxis with isoniazid
- Prenatal genetic counseling in high risk pregnancies.
What to expect (Outlook/Prognosis)?
The prognosis depends on the severity of the disease. Finding the cause is the main factor which determines the prognosis
Possible complications
As sideroblastic anemia has a vast majority of causes the complications depends on the specific etiology