Open AccessDiagnostic challenges posed by a rare alpha globin chain variant Hb Fontainebleau in a pregnant female and its potential effects in her children in view of multiple globin gene defects in her husband
Author(s) -
Kainaz Sidhwa,
Manisha Ramani Daruwalla,
Ravikiran Pawar,
Anita Nadkarni,
Priya Hariharan,
Pallavi Mehta,
Amar Gupta
Publication year - 2019
Publication title -
indian journal of pathology and microbiology/indian journal of pathology and microbiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.217
H-Index - 31
eISSN - 0974-5130
pISSN - 0377-4929
DOI - 10.4103/ijpm.ijpm_218_18
Subject(s) - globin , alpha (finance) , alpha chain , offspring , hemoglobin variants , hemoglobin , genetics , gene , compound heterozygosity , biology , medicine , microbiology and biotechnology , phenotype , pregnancy , biochemistry , surgery , construct validity , patient satisfaction
Alpha globin chain variants per se do not cause severe morbidity and mortality but can modify - usually ameliorate - the clinical manifestations of beta globin chain variants when co-inherited with the latter. They also pose challenges in interpretation of high-performance liquid chromatography histograms and require molecular analysis for proper characterization. Hemoglobin (Hb) Fontainebleau is a rare alpha globin chain variant [alpha 21(B2) Ala→Pro], of which only three families have been reported from India in the past. Here, we describe a case of Hb fontainebleau detected in heterozygous condition in a 19-year-old primigravida. Her husband was found to have a double heterozygous state for HbQ India and beta-thalassemia trait. This opens up the possibility of multiple combinations of hemoglobinopathies in the offspring.