Haemoglobin Titusville: A case study and review of the literature

Mina, Mina; James, R. M.; Gandhi, Salil

doi:10.1111/jpc.13859

Cited by 6 publications

(3 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Two cases of Hb Titusville (father and his newborn daughter) were recently reported in an Indian family residing in Australia [5]. So, to the best of our knowledge, the cases being reported by us are the first such cases from India.…”

mentioning

confidence: 53%

Hemoglobin Titusville [α2 Codon 94 G>A]: A Rare Alpha Globin Chain Variant Causing Low Oxygen Saturation

Gupta

Hariharan

Daruwalla

et al. 2019

Indian J Hematol Blood Transfus

View full text Add to dashboard Cite

mentioning

confidence: 53%

Hemoglobin Titusville [α2 Codon 94 G>A]: A Rare Alpha Globin Chain Variant Causing Low Oxygen Saturation

Gupta

Hariharan

Daruwalla

et al. 2019

Indian J Hematol Blood Transfus

View full text Add to dashboard Cite

“…Affected individuals are mostly asymptomatic, except for eventual mild anemia and exertion dyspnea. This condition does not require any speci c management for hypoxia and no long-term consequences are reported, not even in case of general anesthesia or major surgeries [7]. The diagnosis may however be challenging when dealing with comorbidities, as in this case; nevertheless a rational diagnostic approach is crucial in order to avoid misdiagnoses and therapeutic mistakes.…”

Section: Discussionmentioning

confidence: 95%

A long-lasting low oxygen saturation hiding Titusville Hemoglobin diagnosis in a premature 14-month-old child – Case Report

Patria,

Piotto,

Curcio

et al. 2024

Preprint

View full text Add to dashboard Cite

Background: There are some clinical conditions that can impact the accuracy of spO2 measurements, leading to an incorrect diagnosis of hypoxemia. Low oxygen affinity hemoglobinopathy can present with low spO2 and discordance with PaO2 and and general clinical conditions Case Presentation: We report the case of a 14-month-old male, born extremely premature, suffering from severe BPD requiring continuous high-flow nasal cannula (HFNC) oxygen therapy, who was hospitalized due to a viral respiratory infection with dyspnea and desaturation. When the child clinically recovered, all attemps of weaning off oxygen led to rapid drops in spO2, despite the lack of increased work of breathing or cyanosis and normal PaO2. Conclusions: Severe BPD and recurrent respiratory issues could have per se justified the persistently low spO2. Incongruence between low spO2 values, normal PaO2 levels and good clinical condition, once the child was recovered, raised suspicion of low oxygen affinity hemoglobin (Hb) variants. Abnormal Hb peak detected through high-performance liquid chromatography allowed rare diagnosis of Hb Titusville, confirmed by molecular analysis. In conclusion, the case matched a rare low oxygen affinity hemoglobinopathy (Hb Titusville), highlighting its relevance in unexplained hypoxemia. Diagnosis challenges necessitate a systematic approach to prevent misinterpretations.

show abstract

“…To our knowledge, we provided here for the first time, an exhaustive description of a neonatal isolated cyanosis due to Hb St Mandé and more generally to a β variant, while some cases have been published within mutation of γ-globin 5 or α-globin, 6 and two infants with β variants were only mentioned in a recent publication. 7 When patients are unexpectedly found to have low SpO 2 with no sign of respiratory or cardiac failure, such condition should be suspected in order to avoid unnecessary investigations.…”

mentioning

confidence: 99%

Neonatal cyanosis with Hb St Mandé, a low O₂ affinity hemoglobin variant affecting β‐globin

Millet

Moutereau²,

Boileau

et al. 2022

Pediatric Blood & Cancer

View full text Add to dashboard Cite

Globin gene mutations affecting hemoglobin (Hb) are present within 7% of the world population. More than 1000 Hb variants are known and most of them are not health compromising. Some of these variants may alter affinity for oxygen (O 2 ), through switching from the deoxygenated low-affinity "T" (for tense) to the oxygenated high-affinity "R" (for relaxed) Hb state.Low O 2 affinity variants are caused by globin amino acid substitution that destabilize the R state and/or reinforce the T state. This favors Hb-O 2 release in tissue capillaries, but may impede full Hb saturation with Hb-O 2 in the alveolar PO 2 , reflecting by an elevated P50 and resulting in chronic cyanosis. Hb Saint Mandé, an autosomal dominant disorder described in 1981, 1 is characterized by isolated asymptomatic moderate anemia and cyanosis with no respiratory distress. It is due to a mutation leading to an Asn-Tyr substitution, prone to modify both α1β2 and α2β1 contacts through disturbance of several hydrogen bonds. [2][3][4] Oxygen-affinity curve shifts to the right with P50 around 50 mmHg. Functional studies and structural modeling reveal an altered

show abstract

Haemoglobin Titusville: A case study and review of the literature

Cited by 6 publications

References 8 publications

Hemoglobin Titusville [α2 Codon 94 G>A]: A Rare Alpha Globin Chain Variant Causing Low Oxygen Saturation

Hemoglobin Titusville [α2 Codon 94 G>A]: A Rare Alpha Globin Chain Variant Causing Low Oxygen Saturation

A long-lasting low oxygen saturation hiding Titusville Hemoglobin diagnosis in a premature 14-month-old child – Case Report

Neonatal cyanosis with Hb St Mandé, a low O₂ affinity hemoglobin variant affecting β‐globin

Contact Info

Product

Resources

About

Haemoglobin Titusville: A case study and review of the literature

Cited by 6 publications

References 8 publications

Hemoglobin Titusville [α2 Codon 94 G>A]: A Rare Alpha Globin Chain Variant Causing Low Oxygen Saturation

Hemoglobin Titusville [α2 Codon 94 G>A]: A Rare Alpha Globin Chain Variant Causing Low Oxygen Saturation

A long-lasting low oxygen saturation hiding Titusville Hemoglobin diagnosis in a premature 14-month-old child – Case Report

Neonatal cyanosis with Hb St Mandé, a low O2 affinity hemoglobin variant affecting β‐globin

Contact Info

Product

Resources

About

Neonatal cyanosis with Hb St Mandé, a low O₂ affinity hemoglobin variant affecting β‐globin