Iron Refractory Iron Deficiency Anemia in Dizygotic Twins Due to a Novel <i>TMPRSS6</i> Gene Mutation in Addition to Polymorphisms Associated With High Susceptibility to Develop Ferropenic Anemia

Pinto, Joana; Jesus, Gustavo Nobre de; Anselmo, Mónica Palma; Gonçalves, Lucia Gutheil; Brás, Daniela; Lopes, João Madeira; Meneses, João; Victorino, Rui; Faustino, Paula

doi:10.1177/2324709617701776

Cited by 6 publications

(8 citation statements)

References 19 publications

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“…The TMPRSS6 gene encodes for the enzyme matriptase‐2 or transmembrane serine protease 6 that inhibits hepcidin transcription, producing intestinal iron absorption and release of cellular iron. Variation in this gene has been associated with Hb concentrations, iron‐refractory IDA, and phenotypes related to iron metabolism …”

Section: Resultsmentioning

confidence: 99%

Genetic variation influencing hemoglobin levels and risk for anemia across populations

Barrera-Reyes

Tejero

2019

Annals of the New York Academy of Sciences

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Hemoglobin (Hb) concentration is the outcome of the interaction between genetic variation and environmental factors, including nutritional status, sex, age, and altitude. Genetic diversity influencing this protein is complex and varies widely across populations. Variants related to abnormal Hb or altered characteristics of the erythrocytes increase the risk for anemia. The most prevalent are related to the inherited globin abnormalities affecting Hb production and structure. Malaria-endemic regions harbor the highest frequencies of variants associated with the most frequent monogenic diseases and the risk for nonnutritional anemia and are considered as public health problems. Variation in genes encoding for enzymes and membrane proteins in red blood cells also influence erythrocyte life span and risk for anemia. Most of these variants are rare. Interindividual variability of hematological parameters is also influenced by common genetic variation across the whole genome. Some of the identified variants are associated with Hb production, erythropoiesis, and iron metabolism. Specialized databases have been developed to organize and update the large body of available information on genetic variation related to Hb variation, their frequency, geographical distribution, and clinical significance. Our present review analyzed the underlying genetic factors that affect Hb concentrations, their clinical relevance, and geographical distribution across populations.

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Section: Resultsmentioning

confidence: 99%

Genetic variation influencing hemoglobin levels and risk for anemia across populations

Barrera-Reyes

Tejero

2019

Annals of the New York Academy of Sciences

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“…This promotes anaerobic metabolism leading to myasthenic changes in esophageal muscles, which in turn forms esophageal webs. The dysphagia is rarely due to esophageal muscular discoordination [10][11]. Patients with iron deficiency have low levels of myoglobin which may affect the muscles of the tongue and lead to glossitis.…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Plummer-Vinson Syndrome

Gade¹,

Pacheco²

2019

Cureus

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Plummer-Vinson syndrome (PVS) is characterized by a triad of symptoms comprising microcytic hypochromic anemia, esophageal webs, and dysphagia. PVS is commonly found in women of middle age especially in the fourth and fifth decade of life and is rarely reported in males. We report a case of a 39-year-old female patient who had a classic presentation of PVS. PVS is precancerous with high malignant potential; early diagnosis is of utmost importance for better prognosis and surveillance endoscopy is recommended. Iron repletion oftentimes improves the dysphagia; seldom esophageal dilatation is used to provide symptomatic relief.

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“…Iron deficiency anemia (IDA) is a frequent entity that generates 50% of the anemia in the world [1]. Even if the TMPRSS6 gene analysis.…”

Section: Introductionmentioning

confidence: 99%

“…Iron-refractory iron deficiency anemia (IRIDA) is a hypochromic microcytic anemia, an autosomal recessive disorder and shows iron deficiency anemia that is refractory to oral iron therapy but partially refractory to parenteral iron therapy. This hypochromic microcytic pattern connected with the low transferrin saturation, normal or high ferritin and abnormally high hepcidin levels [1]. The underlying reason for the disease is the mutations of the TMPRSS6 gene.…”

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confidence: 99%

First Observation of Two TMPRSS6 Gene Mutations (G603R and K636AFSX17) in Turkish Population

Ardicoglu¹,

Gulnaz²,

Önay³

et al. 2019

Int J Blood Res Disord

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Introduction: Iron is one of the elements that participate numerous reaction on the body and the structure of hemoglobin to the purpose of carrying oxygen to the tissues. Thus, iron deficiency causes different problems in the body. Iron-refractory iron deficiency anemia (IRIDA) is a genetic disorder that has some signs of iron deficiency anemia (IDA) but refractory to oral iron and partially refractory to intravenous iron. The mutation in TMPRSS6 gene causes matriptase-2 protein deficiency that negatively regulates hepcidin molecule. Thus, increasing hepcidin connects its receptor ferroportin and decreases iron absorption. Consequently, IRIDA appears. Case description:Here we present a 7.5-years-old girl who was followed for three years with the clinical diagnosis of iron-refractory iron deficiency anemia, and mutations on TMPRSS6 gene. Conclusion:After excluding the other iron deficiency causes, IRI-DA and the mutations on TMPRSS6 gene should be kept in mind in patients with low transferrin saturation, normal levels of the ferritin, high levels of the hepcidin molecules and family history about iron deficiency anemia.

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Iron Refractory Iron Deficiency Anemia in Dizygotic Twins Due to a Novel TMPRSS6 Gene Mutation in Addition to Polymorphisms Associated With High Susceptibility to Develop Ferropenic Anemia

Cited by 6 publications

References 19 publications

Genetic variation influencing hemoglobin levels and risk for anemia across populations

Genetic variation influencing hemoglobin levels and risk for anemia across populations

A Rare Case of Plummer-Vinson Syndrome

First Observation of Two TMPRSS6 Gene Mutations (G603R and K636AFSX17) in Turkish Population

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