Hb Kalundborg [ß79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement.

A previously unknown hemoglobin (Hb) variant was detected during measurement of glycosylated Hb (Hb A1c) after the introduction of a new high performance liquid chromatography (HPLC) apparatus. Subsequent DNA sequencing revealed a heterozygous single nucleotide substitution at codon 79 (C>A) on the ß-globin gene changing an amino acid [ß79(EF3)Asp→Glu; HBB: c.240C>A]. The new Hb variant was named Hb Kalundborg after the place of origin of the proband. Heterozygosity for this mutation appears to have no clinical significance in itself except for a possibly slightly lower oxygen affinity. However, it interferes with Hb A1c measurement by HPLC, causing a falsely high Hb A1c concentration when using the G11 apparatus with clinical implications possibly to follow.

The Degree of Multidimensional Severity of Alcohol Use Disorder among Treatment-Seeking Patients: Is There an Additive Effect of Parental Alcohol Use Disorder?

BACKGROUND: The additive effect of parental alcohol use disorders (AUD) is conventionally defined as an increasing risk of the offspring developing AUD relative to family history negative, < family history positive with 1 parent (FHP1), < FHP2. The few studies on the additive effect of parental AUD have focused on the risk of development of offspring AUD and not on the degree of multidimensional AUD addiction severity. AIMS: The aims of the present study were to examine the frequency of treatment-seeking outpatients exposed to FHP1 and FHP2 and whether addiction severity was impacted by the additive effect of parental AUD among AUD female and male offspring. METHODS: This cross-sectional  study was based on 3,361 consecutive treatment-seeking outpatients from 2006 to 2016, assessed by means of the -European Addiction Severity Index (EUROP-ASI). The -EUROP-ASI assessed multidimensional addiction severity, comprising alcohol and other drug use, somatic and psychiatric health status, family and other social status, economy and employment-related problems and criminal status composite scores at treatment entry. RESULTS: Among females, 40.38% had FHP1 and 15.68% FHP2, whereas males had 40.90% FHP1 and 13.24% FHP2. No conventional additive effect was found on the composite scores among both genders. However, another type of synergistic additive effect, only manifesting with exposure to FHP2, was found for employment-related problems and psychiatric status composite scores among male offspring. CONCLUSIONS: Exposure to parental AUD is strikingly high among treatment-seeking outpatients. Nonetheless, the additive effect has a modest impact on multidimensional addiction severity and is mostly related to psycho-social impairment among treatment-seeking male offspring.