Developmental Changes in HbA&lt;sub&gt;2&lt;/sub&gt; and HbF on Neocytes and Gerocytes in Normal Infants during the First Year of Life

Iolascon, Achille; Pinto, L. Comenale; Nobili, Brúno; Cutillo, S

doi:10.1159/000206744

Cited by 3 publications

(2 citation statements)

References 4 publications

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“…HbA 2 in healthy neonates is 0.0‐0.8% 9 . HbA 2 reaches the equivalent of 80% of adult HbA 2 (2.0‐3.5%) in the second month and the same level as that in adults in early infancy 10 . In our patient, the high HbA 2 value at birth (1.69%) was considered to be affected by IUT.…”

Section: Discussionmentioning

confidence: 51%

“…9 HbA 2 reaches the equivalent of 80% of adult HbA 2 (2.0-3.5%) in the second month and the same level as that in adults in early infancy. 10 In our patient, the high HbA 2 value at birth (1.69%) was considered to be affected by IUT. Based on the ratio of transfused blood to patient blood, which was calculated from the Hb and HbF values, the true HbA 2 value was estimated to be 0.4%-1.5%.…”

Section: Discussionmentioning

confidence: 71%

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(GγAγδβ)0$({}^{\rm G}{\gamma}{}^{\rm A}{\gamma}\delta\beta)^0$‐Thalassemia: Report of two cases in a family

Tomiyama,

Takayama,

Konno

et al. 2023

Pediatric Blood & Cancer

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Case 1 presented with severe anemia and received an intrauterine blood cell transfusion at 33 weeks of gestation. The anemia spontaneously improved in early infancy. Case 2, the father of Case 1, had an uneventful birth with no evidence of anemia, though microcytic anemia was observed during childhood. The genetic analysis of the β‐globin gene cluster identified a novel heterozygous deletion of DNA extending from the Gγ‐globin gene downstream to the β‐globin gene, confirming a diagnosis of (GγAγδβ)0‐thalassemia. In cases where thalassemia is suspected based on blood tests, a genetic diagnosis should be performed for the sake of the offspring.

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Section: Discussionmentioning

confidence: 51%

Section: Discussionmentioning

confidence: 71%

(GγAγδβ)0$({}^{\rm G}{\gamma}{}^{\rm A}{\gamma}\delta\beta)^0$‐Thalassemia: Report of two cases in a family

Tomiyama,

Takayama,

Konno

et al. 2023

Pediatric Blood & Cancer

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Developmental changes in red cell creatine and free erythrocyte protoporphyrin in healthy full-term infants during the first 6 months of life

Paes

Andrew

Milner

et al. 1986

The Journal of Pediatrics

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First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE)

Mandrile¹,

Barella

Giambona

et al. 2022

JCM

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The purpose of this best practice paper is to review the current recommendations for the identification and prenatal diagnosis of hemoglobinopathies. Methods: The management committee of SITE selected and gathered a multidisciplinary team in order to formulate recommendations based on the available scientific evidence integrated with the opinions of experts, with the purpose of supporting clinicians. Results: We provide recommendations for first level tests (complete blood count, hemoglobin separation and iron balance), second level tests (molecular diagnosis) and prenatal diagnosis. Five Italian experts in hemoglobinopathies were consulted regarding the orientation of prenatal diagnosis, and for each indication, the degree of agreement among the experts has been specified. Conclusions: Best practice recommendations are the final outcome of this translational research and allow transfer to daily clinical practice.

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Developmental Changes in HbA<sub>2</sub> and HbF on Neocytes and Gerocytes in Normal Infants during the First Year of Life

Cited by 3 publications

References 4 publications

(GγAγδβ)0$({}^{\rm G}{\gamma}{}^{\rm A}{\gamma}\delta\beta)^0$‐Thalassemia: Report of two cases in a family

(GγAγδβ)0$({}^{\rm G}{\gamma}{}^{\rm A}{\gamma}\delta\beta)^0$‐Thalassemia: Report of two cases in a family

Developmental changes in red cell creatine and free erythrocyte protoporphyrin in healthy full-term infants during the first 6 months of life

First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE)

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