PMC9752143_01
Pedigree analysis and Sanger sequencing results of heterozygous missense HBB and PKLR mutations in the proband and her family members. (A) Family pedigree showing that heterozygous missense HBB mutation and PKLR variant in the proband were inherited in trans, respectively. Solid black dot, PKLR variant; filled vertical line, missense HBB mutation. (B) In the left column, a missense PKLR variant (NM_000298.6: c.1607G>A, p.Gly536Asp) was inherited with a paternal origin (indicated by solid red dot). In the right column, a missense mutation (NM_000518.5: c.79G>A, p.Glu27Lys; rs33950507) of the HBB was inherited with a maternal origin (indicated by vertical striped red dot). (C) Sequence alignment of the PKLR protein in multiple vertebrate species. Protein sequence of the Gly536 residue is highly conserved between Human and Tetraodon except Danio and Oryzias analyzed by Evola (http://www.h-invitational.jp/evola/). It is highlighted in the red letter.
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F1
A 7-year-old girl (III-1 in Figure 1A) with jaundice, a firstborn female of healthy parents (Korean male and Vietnamese female) at 39 weeks of gestation, visited the Division of Endocrinology, Department of Pediatrics, Jeonbuk National University Hospital (Jeonju, South Korea), for evaluation of a persistent hemolytic anemia. As a result, heterozygous missense mutation (NM_000518.5: c.79G>A, p.Glu27Lys; rs33950507) of the HBB was detected in both the proband and her mother (II-2 in Figure 1A).