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Hereditary Sideroblastic Anemia

X-linked sideroblastic anemia


Presentation

  • Clinical description The anemia can present at any age from birth to the 9th decade. Some patients are asymptomatic and are detected incidentally by hematological screening or through a family study.[orpha.net]
  • The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts.[icdlist.com]
  • Improve your interpretation of presenting symptoms with 38 new topics and 40 new images in the Differential Diagnosis section, and optimize patient care with more than 250 new figures and tables.[books.google.com]
  • Whereas males are preferentially affected, females may present with clinically severe anemia.[diseaseinfosearch.org]
  • Silberstein, MD, Helen Heslop, MD, Jeffrey Weitz, MD, John Anastasi, MD, and a host of world-class contributors present the expert, evidence-based guidance you need to make optimal use of the newest diagnostic and therapeutic options.[books.google.com]
Subcutaneous Bleeding
  • Subcutaneous bleeding may occur, causing a brownish-red effect. Excess iron accumulation, known as hemochromatosis , accumulates over years in the bone marrow , liver, heart, and other tissues.[encyclopedia.com]
Fatigue
  • Clinical features are those of anemia and/or iron overload such as pallor, fatigue, weakness.[orpha.net]
  • Weakness, fatigue and palpitations are due to cardiac involvement. Iron toxicity leads to defective hormone production which can lead to growth delay.[themedicalbiochemistrypage.org]
  • Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly).[icdlist.com]
  • Iron builds up in red blood cells, and patients may have a hard time breathing and feel weak and fatigued. All types of blood cells are low.[cincinnatichildrens.org]
Asymptomatic
  • Some patients are asymptomatic and are detected incidentally by hematological screening or through a family study. Clinical features are those of anemia and/or iron overload such as pallor, fatigue, weakness.[orpha.net]
Abnormal Eye Movement
  • Mild speech difficulties (dysarthria), tremor, and abnormal eye movements have also been reported in some affected individuals. [ Read More ] X-linked sideroblastic anemia X-linked sideroblastic anemia is an inherited disorder that prevents developing[icdlist.com]
Kidney Failure
  • Heart disease, liver damage, and kidney failure can result from iron buildup in these organs.[slideshare.net]
  • Heart disease, liver damage, and kidney failure can result from iron buildup in these organs. [7] Causes [ edit ] Causes of sideroblastic anemia can be categorized into three groups: congenital sideroblastic anemia, acquired clonal sideroblastic anemia[en.wikipedia.org]
Headache
  • You may be short of breath or have a headache. Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have.[icdlist.com]
  • Headache. Irritability and other mood disturbances. Mental confusion. Loss of sexual drive. Shortness of breath on exertion.[doctor-clinic.org]
  • The symptoms and signs of congenital sideroblastic anemia (CSA) in children are primarily related to the anemia and its severity: Fatigue, weakness Irritability Exercise/feeding intolerance Exertional dyspnea Headache, vertigo Pale or yellow skin Some[danafarberbostonchildrens.org]
Dysmetria
  • In addition to ataxia, people with this condition often have trouble coordinating movements that involve judging distance or scale (dysmetria) and find it difficult to make rapid, alternating movements (dysdiadochokinesis).[icdlist.com]
  • Dysmetria, finger-nose and heel-shin ataxia, dysarthria, intention tremor and diminished deep tendon reflexes are usually present to varying degrees. Nystagmus, strabismus and abnormal plantar responses may or may not be present.[clinicalgate.com]

Workup

Free Erythrocyte Protoporphyrin
  • Acquired hypochromic and microcytic sideroblastic anaemia responsive to pyridoxine with low value of free erythrocyte protoporphyrin: a possible subgroup of idiopathic acquired sideroblastic anaemia (IASA). Br J Haematol 1995;90:207–209. 10.[synapse.koreamed.org]
  • Except for a serum aspartate aminotransferase concentration of 62 U per liter, liver-function tests were normal, as were determinations of serum vitamin B 12 , blood lead, and free erythrocyte protoporphyrin.[nejm.org]
Bone Marrow with Ringed Sideroblasts
  • The ICD code D640 is used to code Sideroblastic anemia Sideroblastic anemia or sideroachrestic anemia is a form of anemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).[icd.codes]
  • بالتوفيق‬ ‫لي‬ ‫ادعو‬ Page 1 Sideroblastic anemia Sideroblastic anemia or sideroachrestic anemia is a disease in which the bone marrow produces ringed sideroblasts rather than healthy RBCs (erythrocytes).[slideshare.net]
  • marrow aspirate: ring sideroblasts Ringed sideroblasts are seen in the bone marrow.[en.wikipedia.org]
  • marrow with ring sideroblasts. 2 Ineffective erythropoiesis and red-cell transfusions lead to secondary hemochromatosis, and survival is seldom beyond the second decade. 3 Conventional allogeneic hematopoietic stem cell transplantation (alloHSCT) has[nature.com]

Treatment

  • Management and treatment Treatment is supportive and involves hematological monitoring, the surveillance of iron levels, lifetime pyridoxine supplementation in those who respond and folic acid supplementation.[orpha.net]
  • Molecular analysis of these cases will contribute not only to the development of effective treatment, but also to the understanding of mitochondrial iron metabolism.[ncbi.nlm.nih.gov]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • (IRIDA); Sideroblastic Anemia; Anemia of Chronic Disease/Inflammation; Pathophysiology of Transfusional Iron Overload; Transfusional Iron Overload and Iron Chelation Therapy; Iron Overload and its Management in Non-Transfusion-Dependent Thalassemia; Treatment[books.google.com]
  • Treatment and management The main objective in treatment of X-linked sideroblastic anemia is to prevent the development of diabetes, cirrhosis, and heart failure from iron overload (hemochromatosis).[encyclopedia.com]

Prognosis

  • Prognosis Prognosis is variable but for patients with pyridoxine-responsive anemia whose iron stores are kept low, normal life expectancy should be achievable The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis The disorder can often be kept in check with regular medical supervision. Many individuals with X-linked sideroblastic anemia require chronic transfusion to maintain acceptable hemoglobin levels.[encyclopedia.com]
  • A normal karyotype carries the most favorable prognosis. Monosomy 7 or deletions of the long arms of chromosome 7 are associated with a worse prognosis. “What if” scenarios.[psychiatryadvisor.com]
  • Few patients are eligible for transplant. [ 1 ] Prognosis [ 9 ] The prognosis is very variable. Reversible causes (eg, alcohol or drugs) appear to have no long-term effects if the underlying cause is successfully treated or removed.[patient.info]
  • Course and prognosis Sideroblastic anemia’s are often described as responsive or non-responsive in terms of increased Hb level to pharmacological doses of vitamin B6. 4. ‫بالتوفيق‬ ‫لي‬ ‫ادعو‬ Page 4[slideshare.net]

Etiology

  • Etiology SA is due to inherited or de novo mutations in the ALAS2 gene (Xp11.21) encoding the erythroid form of delta amino levulinic acid synthase (ALAS2), which altered function leads to impaired heme synthesis.[orpha.net]
  • Thrombotic Thrombocytopenic Purpura (TTP)/Hemolytic Uremic Syndrome (HUS) Mechanical RBC Damage Target Cells Etiology Liver Disease (see xxxx, [[xxxx]]): especially extrahepatic biliary obstruction Thalassemia (see xxxx, [[xxxx]]) Spur Cells Etiology[mdnxs.com]
  • Etiology and Pathophysiology Inability to use iron for the production of hemoglobin due to inherited or acquired impairment Ineffective erythropoiesis despite abundance of iron in the body Increased GI absorption of iron leading to iron overload Inability[unboundmedicine.com]
  • Once the diagnosis of sideroblastic anemia is made, will need to perform other tests to find the etiology: May check red blood cell protoporphyrin levels.[clinicaladvisor.com]

Epidemiology

  • Summary Epidemiology Prevalence is unknown. Around 200 cases and fewer than 100 unrelated probands are described in the literature. Clinical description The anemia can present at any age from birth to the 9th decade.[orpha.net]
  • Epidemiology SAs are uncommon. Incidence and prevalence are not well studied.[unboundmedicine.com]
  • Epidemiology Refractory anaemia with ringed sideroblasts (RARS) may account for 5-15% of all MDS cases. [ 4 ] Aetiology Congenital The most common inherited sideroblastic anaemia is X-linked sideroblastic anaemia (XLSA) caused by mutations of the erythroid-specific[patient.info]
  • This study was performed to investigate the epidemiological and pathological characteristics of sideroblastic anemia.[link.springer.com]
Sex distribution
Age distribution

Pathophysiology

  • Articles in this issue include: Hereditary Hemochromatosis (HFE and Non-HFE); Iron Refractory Iron Deficiency Anemia (IRIDA); Sideroblastic Anemia; Anemia of Chronic Disease/Inflammation; Pathophysiology of Transfusional Iron Overload; Transfusional Iron[books.google.com]
  • [DS: H00898 ] リンク ICD-11: 3A72 ICD-10: D64.0 D64.3 OMIM: 205950 300751 301310 文献 PMID: 20848343 著者 Harigae H, Furuyama K タイトル Hereditary sideroblastic anemia: pathophysiology and gene mutations.[genome.jp]
  • Pathophysiology N/A What other clinical manifestations may help me to diagnose sideroblastic anemia? N/A What other additional laboratory studies may be ordered? N/A Hoffman, R, Benz, E, Shattil, S. "Hematology Basic Principles and Practice".[psychiatryadvisor.com]
  • Etiology and Pathophysiology Inability to use iron for the production of hemoglobin due to inherited or acquired impairment Ineffective erythropoiesis despite abundance of iron in the body Increased GI absorption of iron leading to iron overload Inability[unboundmedicine.com]
  • Harigae H, Furuyama K ; Hereditary sideroblastic anemia: pathophysiology and gene mutations. Int J Hematol. 2010 Oct92(3):425-31. Epub 2010 Sep 17. Rigoli L, Di Bella C ; Wolfram syndrome 1 and Wolfram syndrome 2.[patient.info]

Prevention

  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • Prophylactic occasional phlebotomy can be performed to prevent iron overload, if anemia is very mild or corrected by pyridoxine.[orpha.net]
  • Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection.[books.google.com]
  • ALAS2 mutations impair the activity of erythroid ALA-synthase, which disrupts normal heme production and prevents erythroblasts from making enough hemoglobin.[ghr.nlm.nih.gov]

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