Hemoglobin Loves Park [β68 (E12) Leu→Phe]: Report of five cases including one originating from a de novo mutation

Hemoglobin (Hb) Loves Park [β68 (E12) Leu→Phe] was identified in a 2‐year‐old Portuguese boy with anemia, microcytosis, and hypochromia. This Hb variant was detected by isoelectric focusing and quantified by reverse‐phase high‐performance liquid chromatography (HPLC) (48.4%), and the DNA mutation wa...

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Published in:American journal of hematology 2006-04, Vol.81 (4), p.256-261
Main Authors: Ferreira, Cristina, Hoyer, James D., Miranda, Armandina, Picanço, Isabel, Almendra, Vanda, Seixas, Maria Teresa, Almeida, Teresa, Romão, Luísa, Faustino, Paula
Format: Article
Language:English
Subjects:
Amino Acid Substitution
Anemia, Hypochromic - blood
Anemia, Hypochromic - genetics
Child, Preschool
Chromatography, High Pressure Liquid - methods
de novo mutation
DNA Mutational Analysis - methods
HBB gene
hemoglobin variant
hemoglobinopathies
Hemoglobins, Abnormal - analysis
Hemoglobins, Abnormal - genetics
Humans
Isoelectric Focusing
Male
Multigene Family - genetics
Point Mutation
Tandem Repeat Sequences - genetics
United States
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Summary:Hemoglobin (Hb) Loves Park [β68 (E12) Leu→Phe] was identified in a 2‐year‐old Portuguese boy with anemia, microcytosis, and hypochromia. This Hb variant was detected by isoelectric focusing and quantified by reverse‐phase high‐performance liquid chromatography (HPLC) (48.4%), and the DNA mutation was identified by HBB (β‐globin gene) sequencing. Hematological and biochemical analyses performed on his parents revealed normal hematological parameters and normal hemoglobin and globin chain profiles. DNA sequence analysis of the HBB gene of both parents showed the absence of the Hb Loves Park mutation. Study of the haplotypes in the β‐globin gene cluster confirmed parenthood. Moreover, paternity was confirmed by the study of nine short tandem repeats (STRs) and four variable‐number tandem repeat (VNTRs) loci. The most likely explanation for these results is that the Hb Loves Park mutation has occurred de novo in this family. The original American cases of Hb Loves Park, from a family of Italian origin, which were never published, as well as two additional cases, are also included in this report. Functional studies revealed that Hb Loves Park is stable and has a decreased oxygen affinity. Am. J. Hematol. 81:256–261, 2006. © 2006 Wiley‐Liss, Inc.
ISSN:0361-8609
1096-8652
DOI:10.1002/ajh.20548