Sideroblastic Anemia with Splenic Abscess and Fatal Thromboemboli after Splenectomy

ALEALI, SYED H.

doi:10.7326/0003-4819-83-5-661

Cited by 10 publications

(5 citation statements)

References 15 publications

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“…As our data about adverse vascular events come only from families with hereditary spherocytosis, we searched Medline for reports of adverse vascular events occurring more than 1 month after splenectomy, regardless of the indication for surgery. We found 80 citations [1,7–85] documenting nine different, although not necessarily independent, adverse vascular events after splenectomy performed for more than 14 different indications. (A tabulation of these data is available via e‐mail request to RFS.…”

Section: Discussionmentioning

confidence: 99%

Delayed adverse vascular events after splenectomy in hereditary spherocytosis

Schilling

Gangnon

Traver

2008

Journal of Thrombosis and Haemostasis

103

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To cite this article: Schilling RF, Gangnon RE, Traver MI. Delayed adverse vascular events after splenectomy in hereditary spherocytosis. J Thromb Haemost 2008; 6: 1289-95.Summary. Background: It is probable that the variety and frequency of delayed adverse vascular events after splenectomy are underappreciated. Splenectomy is performed for a wide variety of conditions, and delayed postsplenectomy hazards are not often studied. Objective: To estimate the relative risk of adverse vascular events in members of hereditary spherocytosis families who have or have not had a splenectomy. Methods: Members of families in which hereditary spherocytosis exists were systematically questioned about adverse vascular events. Results: The cumulative incidence of arterial and venous events at age 70 years was greater in persons who had undergone a splenectomy for spherocytosis (arterial, 22% females, 32% males; venous, 20% females, 19% males) than in affected persons who did not undergo splenectomy (arterial, 3% females, 2% males; venous, 6% females, 4% males) or non-affected family members (arterial, 10% females, 17% males; venous, 4% females, 12% males). Affected subjects who undergo splenectomy are at greatly increased risk of arterial events as compared to affected subjects who do not undergo splenectomy [arterial, hazard ratio (HR) 7.2, 95% confidence interval (CI) 2.8-17.2; venous, HR 3.3, 95% CI 1.1-9.8]. Conclusion: There is a significant, long-lasting, increased risk of adverse arterial and venous thromboembolic events after splenectomy performed for hereditary spherocytosis. A review of the literature indicates that this is also true when splenectomy is performed for several other indications.

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Section: Discussionmentioning

confidence: 99%

Delayed adverse vascular events after splenectomy in hereditary spherocytosis

Schilling

Gangnon

Traver

2008

Journal of Thrombosis and Haemostasis

103

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“…All TRNT1 patients required regular blood transfusions, iron chelation and intravenous immunoglobulin replacement. Only two patients were splenectomised (ALAS2 n = 1, SLC25A38 n = 1); splenectomy is often contraindicated because of the high risk of severe, possibly fatal, thromboembolic complications (Aleali et al, 1975;Bottomley, 1991;Byrne et al, 2010). Haematopoietic stem cell transplantation was performed in only one patient lacking a molecular diagnosis.…”

Section: Treatment Options and Follow-upmentioning

confidence: 99%

Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort

et al. 2019

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Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron-sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a cohort of childhood-onset CSA patients to explore genotype/phenotype correlations. We studied 23 females and 20 males with symptoms of CSA. Among the patients, the most frequently mutated genes were ALAS2 (n = 10; 23Á3%) and SLC25A38 (n = 8; 18Á6%), causing isolated forms of microcytic anaemia of varying severity. Five patients with SLC19A2 mutations suffered from thiamine-responsive megaloblastic anaemia and three exhibited the 'anaemia, deafness and diabetes' triad. Three patients with TRNT1 mutations exhibited severe early onset microcytic anaemia associated with thrombocytosis, and two exhibited Bcell immunodeficiency, inflammatory syndrome and psychomotor delay. The prognoses of patients with TRNT1 and SLC2A38 mutations were generally dismal because of comorbidities or severe iron overload. No molecular diagnosis could be established in 14/43 cases. This study emphasizes the frequency of ALAS2 and SLC25A38 mutations and provides the largest comprehensive analysis to date of genotype/phenotype correlations in CSA. Further studies of CSA patients with data recorded in an international registry would be helpful to improve patient management and establish standardized guidelines.

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“…His splenectomy may have been performed to alleviate anemia or splenomegaly, as reported in other men with ALAS2 mutations [15, 16]. Some patients with sideroblastic anemia developed venous thromboembolism after splenectomy, and thus it has been recommended by some authors that splenectomy not be performed in patients with sideroblastic anemia [17, 18]. The results of his hemoglobin electrophoresis excluded the possibility that he had β-thalassemia that could have contributed to his anemia or iron overload.…”

Section: Discussionmentioning

confidence: 99%

Multi-Organ Iron Overload in an African-American Man with <i>ALAS2</i> R452S and <i>SLC40A1</i> R561G

Sussman¹,

Lee

Dries

et al. 2008

Acta Haematol

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Background: X-linked sideroblastic anemia (XLSA) is associated with iron overload and mutations in ALAS2, which encodes 5-aminolevulinate synthase. There are few reports of XLSA in persons of sub-Saharan African descent. Methods: A 47-year-old African-American man had microcytic anemia, elevated iron measures, cardiomyopathy, hepatic cirrhosis, diabetes mellitus, a history of cocaine use and hepatitis C. We amplified and directly sequenced his genomic DNA to detect mutations of SLC40A1, HFE, TFR2, HAMP, HJV and ALAS2. Results: The subject’s transferrin saturation was 100% and his serum ferritin was 2,960 ng/ml. An MRI scan revealed diffusely decreased T₂ signals of the heart, liver and pancreas. Transjugular right endomyocardial and liver biopsy specimens revealed marked iron deposition in cardiac myocytes and hepatocytes, and cirrhosis. He died of progressive cardiomyopathy. He was hemizygous for ALAS2 R452S (exon 9; c.1354C→A) and heterozygous for SLC40A1 R561G (exon 8; c.1681A→G). He did not have coding region mutations in HFE, TFR2, HAMP or HJV. Conclusions:ALAS2 R452S largely explains this patient’s microcytic anemia and multi-organ iron overload and dysfunction. SLC40A1 R561G may have increased his iron absorption and overload further. Acquired factors, especially cocaine use and hepatitis C, may have contributed to his clinical phenotype.

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Sideroblastic Anemia with Splenic Abscess and Fatal Thromboemboli after Splenectomy

Cited by 10 publications

References 15 publications

Delayed adverse vascular events after splenectomy in hereditary spherocytosis

Delayed adverse vascular events after splenectomy in hereditary spherocytosis

Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort

Multi-Organ Iron Overload in an African-American Man with <i>ALAS2</i> R452S and <i>SLC40A1</i> R561G

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