Neonatal Blues: Cyanosis and Failure to Thrive in a Newborn

Holland, Jennifer E.; Yeager, Scott B.; Flyer, Richard H.; Flyer, Jonathan N.

doi:10.14740/ijcp486

Cited by 2 publications

(1 citation statement)

References 10 publications

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“…Moreover, this is a myeloproliferative condition, diagnosed only in adults (Spivak, 2018;Peterson, 2000). Cyanotic congenital heart disease refers to any heart defect that reduces the oxygen delivered to the body (Holland et al, 2022) inducing erythroid hyperplasia to overcome chronic hypoxia (Walor et al, 2005). Prior to the development of surgical techniques, these children, so-called 'blue babies,' had a very short life expectancy and hair-on-end changes were uncommon (Walor et al, 2005).…”

Section: Discussionmentioning

confidence: 99%

Possible thalassemia intermedia in a child (16th–18th century) from the westernmost part of Europe: potential association with malaria and past migrations

Monge Calleja,

Lourenço,

Macedo

et al. 2024

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This study describes a non-adult individual with bone features suggestive of β-thalassemia, a disease commonly found in malaria-endemic regions today and in the past. The skeleton of a 5.5-to 6.5-year-old child exhumed from a 16th-to 18th-century CE necropolis in Almeirim (Portugal) was examined macroscopically, with a scanning electron microscope, and by conventional radiology and computed tomography. This individual shows frontoparietal diploic hyperplasia with a slight hair-onend radiographic appearance and an exuberant serpiginous pattern. The orbital roofs have a plaque-like formation and facial bones display new bone proliferation and porosity. The teeth show caries, calculus deposition, anomalies on the four deciduous canine roots, and linear enamel hypoplasia on the first permanent right upper central incisor. The postcranial skeleton presents osteopenic trabecular appearances, cribra humeralis, and cribra femoralis, the latter associated with malaria. A second non-adult individual (2.5-3.5 years old) had similar lesions in the cranium, raising the question of whether they were siblings. The lesions are consistent with β-thalassemia intermedia, a homozygous or compound heterozygous hemoglobinopathy found in malaria-endemic regions, such as Almeirim, due to the protective advantage conferred by β-thalassemia carriers. Thalassemia presents a wide spectrum of lesions common in other hemolytic anemias, which makes the diagnosis a challenge. Hopefully, biomolecular techniques will assist the diagnosis in skeletonized individuals. To the authors' knowledge, this is the first possible case of thalassemia in the westernmost part of Europe, in a region currently with high prevalence of hemoglobinopathies, attributed to the past Islamic and sub-Saharan presence, and in an area historically affected by malaria.

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Section: Discussionmentioning

confidence: 99%

Possible thalassemia intermedia in a child (16th–18th century) from the westernmost part of Europe: potential association with malaria and past migrations

Monge Calleja,

Lourenço,

Macedo

et al. 2024

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Possible thalassemia intermedia in a child (16th-18th centuries) from the westernmost part of Europe: potential association with malaria and past Islamic migration

Calleja

Lourenço

Macedo

et al. 2023

Preprint

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This study aims to describe a non-adult individual with bone features suggestive of β-Thalassemia, diseases frequent in malaria-endemic regions today and in the past. The skeleton of a 5.5-6.5-year-old child exhumed from a 16th -18th centuries CE necropolis in Almeirim (Portugal) was examined macroscopically, with scanning electron microscope, and by conventional radiology and computed tomography. This individual shows frontoparietal diploic hyperplasia with a slight hair-on-end radiographic appearance and an exuberant serpiginous pattern. The orbital roofs have a plaque-like formation and facial bones display new bone proliferation and porosity. The teeth show caries, calculus deposition, anomalies on the four deciduous canine roots, and linear enamel hypoplasia on the first permanent right upper central incisor. The postcranial skeleton presents developmental delay, osteopenic trabecular appearances, cribra humeralis and cribra femoralis, the latter associated with malaria. A second non-adult individual (2.5–3.5 years old) had similar lesions in the cranium, raising the question if they were siblings. The lesions are consistent with β-Thalassemia intermedia, a homozygous or compound heterozygous hemoglobinopathy found in malaria endemic regions, such as Almeirim, due to the protective advantage conferred by β-Thalassemia carriers. Thalassemia presents a wide spectrum of lesions common in other hemolytic anemias, which difficult their diagnosis. Hopefully, biomolecular techniques will assist the diagnosis in skeletonized individuals. To the authors’ knowledge, this is the first possible case of thalassemia in the westernmost part of Europe, in a region currently with high prevalence of hemoglobinopathies, attributed to the past Islamic and sub-Saharan presence, and in an area historically affected by malaria.

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Neonatal Blues: Cyanosis and Failure to Thrive in a Newborn

Cited by 2 publications

References 10 publications

Possible thalassemia intermedia in a child (16th–18th century) from the westernmost part of Europe: potential association with malaria and past migrations

Possible thalassemia intermedia in a child (16th–18th century) from the westernmost part of Europe: potential association with malaria and past migrations

Possible thalassemia intermedia in a child (16th-18th centuries) from the westernmost part of Europe: potential association with malaria and past Islamic migration

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