A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del

Dabboubi, Rym; Amri, Yessine; Yahyaoui, Salem; Mahjoub, Rahma; Sahli, Chayma Abdelhafidh; Sahli, Chaima Abdelhafidh; Fredj, Sondess Hadj; Bibi, Amina; Sammoud, A.; Messaoud, Taieb

doi:10.1016/j.ejmg.2020.103874

Cited by 10 publications

(4 citation statements)

References 14 publications

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“…Thus, we suspected in our patient a multi-etiological acquired atransferrinemia secondary to chronic undernutrition, inflammation, and liver failure. Interestingly, a trace amount of Tf was detectable by capillary electrophoresis; this is akin to patients with congenital atransferrinemia, which are known to possess residual concentrations of Tf, as a complete absence could be fatal (6). Furthermore, the electrophoretic profile did not reveal any structural abnormality or major glycosylation abnormality, which is impor- Inflammation is usually associated with increased serum ferritin and hepcidin concentrations through the Interleukin-6/Janus kinase/Signal transducer and activator of transcription 3 (IL-6/ Jak/STAT-3) pathway.…”

Section: Discussionmentioning

confidence: 99%

“…Congenital atransferrinemia (OMIM #209300) is associated with genetic variants in the TF gene (3q22.1), usually associated with dramatic consequences related to iron overload in peripheral tissues and significant anaemia ( 7 ). The most recent case reported by Daboubbi et al was a 6-month-old girl with severe hypochromic, microcytic, iron-refractory anaemia and growth retardation ( 6 ). To date, 18 patients from 15 families are known to be affected by congenital atransferrinemia, making it an exceptional occurrence ( 6 ).…”

Section: Discussionmentioning

confidence: 99%

“…The most recent case reported by Daboubbi et al was a 6-month-old girl with severe hypochromic, microcytic, iron-refractory anaemia and growth retardation ( 6 ). To date, 18 patients from 15 families are known to be affected by congenital atransferrinemia, making it an exceptional occurrence ( 6 ). Conversely, acquired (moderate) hypotransferrinemia is a relatively frequent condition; common causes include urinary loss, digestive loss, hepatic failure, and inflammation ( 1 ).…”

Section: Discussionmentioning

confidence: 99%

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Reversible atransferrinemia in a patient with chronic enteropathy

Raynor

Stéfanescu²,

Bruneel³

et al. 2022

Biochem. med. (Online)

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Herein, we report the case of a 42-year-old woman, hospitalized in a French tertiary hospital for a relapse of a chronic enteropathy, who was found on admission to have no detectable serum transferrin. Surprisingly, she only exhibited mild anaemia. This atransferrinemia persisted for two months throughout her hospitalization, during which her haemoglobin concentration remained broadly stable. Based on her clinical history and evolution, we concluded to an acquired atransferrinemia secondary to chronic undernutrition, inflammation and liver failure. We discuss the investigations performed in this patient, and hypotheses regarding the relative stability of her haemoglobin concentration despite the absence of detectable transferrin.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Reversible atransferrinemia in a patient with chronic enteropathy

Raynor

Stéfanescu²,

Bruneel³

et al. 2022

Biochem. med. (Online)

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“…Low transferrin concentration leads to microcytic anemia by deficient iron transport from the peripheral tissues (mainly the liver) to the bone marrow. Iron accumulation in organs leads to liver injury, heart failure, and splenomegaly [ 21 ].…”

Section: Anemiamentioning

confidence: 99%

Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review

Moutapam-Ngamby—Adriaansen,

Maillot,

Labarthe

et al. 2024

Orphanet J Rare Dis

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Inherited Metabolic Diseases (IMD) encompass a diverse group of rare genetic conditions that, despite their individual rarity, collectively affect a substantial proportion, estimated at as much as 1 in 784 live births. Among their wide-ranging clinical manifestations, cytopenia stands out as a prominent feature. Consequently, IMD should be considered a potential diagnosis when evaluating patients presenting with cytopenia. However, it is essential to note that the existing scientific literature pertaining to the link between IMD and cytopenia is limited, primarily comprising case reports and case series. This paucity of data may contribute to the inadequate recognition of the association between IMD and cytopenia, potentially leading to underdiagnosis. In this review, we synthesize our findings from a literature analysis along with our clinical expertise to offer a comprehensive insight into the clinical presentation of IMD cases associated with cytopenia. Furthermore, we introduce a structured diagnostic approach underpinned by decision-making algorithms, with the aim of enhancing the early identification and management of IMD-related cytopenia.

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Red cell disorders: anaemia, jaundice, polycythaemia and cyanosis

2022

Neonatal Haematology

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A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del

Cited by 10 publications

References 14 publications

Reversible atransferrinemia in a patient with chronic enteropathy

Reversible atransferrinemia in a patient with chronic enteropathy

Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review

Red cell disorders: anaemia, jaundice, polycythaemia and cyanosis

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