Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background

Abstract

We report the second case of Hb Titusville in a family of Northern European background. This variant hemoglobin caused by an a-globin gene mutation has decreased oxygen affinity. Correct diagnosis is clinically important to spare affected individuals extensive investigations into other causes of low oxygen saturation in peripheral blood. Am.

First family case of haemoglobinopathy Titusville in France and literature overview

“…Then, in an Australian family of Northern European background, the grandmother (58 years old), her daughter (32 years old) and the new baby born (6 months) were investigated for low pulse oximetry values prior to the identification of the abnormal haemoglobin variant. In the same year 2004, a 14-year-old healthy teenager of Caucasian background in Calgary Canada had a low peripheral blood oxygen saturation 83% and was found to be a heterozygous carrier of Hb Titusville as documented by DNA sequencing 4. The fourth case carrying this haemoglobinopathy, reported in 2006, is an asymptomatic 10-year-old Caucasian boy (of Scottish origins) that was referred for evaluation of low SpO 2 values (82% to 85%) discovered after a routine tonsillectomy and adenoidectomy 5.…”

Haemoglobin Titusville: A case study and review of the literature

“…There have been 17 cases of haemoglobin Titusville reported in the literature, arising from 11 families (including this case) . Eleven females and five males have been identified, with one gender unspecified .…”

“…The first‐ever patient described in the literature was a 3‐year‐old, otherwise healthy, African‐American female . Since 1975, there have been other reported cases in the literature . Haemoglobin Titusville is a low‐oxygen affinity haemoglobinopathy involving a single nucleotide change from G to A at codon 94 of the alpha globin gene .…”

Decreased oxygen saturation as a result of haemoglobin Titusville

“…The patient's abnormal haemoglobin, caused by a point mutation in the alpha‐chain‐coding gene, is known as Hb Titusville (5, 6). The characteristic change is that aspartic acid is substituted with asparagine in the alpha chain.…”