Improvements in the HbVar database of human hemoglobin variants
and thalassemia mutations for population and sequence variation studies.
can cause some HbA1c tests to give false high or low results, leading to treatment that is inadequate or too aggressive.
EDTA whole blood samples from individuals without hemoglobin variants
(HbAA, n = 50) and with HbAE (n=20) or HbAD (n=15) representing a range of Hb A1c values from 4%-12% were analyzed on the [ultra.
Four cases of another hemoglobin variant
, the HbD-Punjab trait, were detected.
Diseases caused by hemoglobin variants
affect about 3.
The new Matrix-Assisted Laser Desorption Ionisation time-of-flight mass spectrometry based test for hbA1c and genetic hemoglobin variants
is intended for use on the MALDI Biotyper platform is likely to provide specificity, accuracy, speed of analysis and cost per analysis.
HPLC method also produces a chromatogram that shows the different hemoglobin fractions, allowing identification of different hemoglobin variants
Hemoglobin fraction analysis has the advantage of quantifying HbF, HbA2 and hemoglobin variants
of thalassemias4-7 and studies have used this investigation for studying hemoglobinopathies and thalassemias in newborn-screening programs8 -11.
were found in 30% of the samples from African Americans, with an elevated HbF being the predominant finding.
Since the discovery of HbS in 1949, the number of hemoglobin variants
is increasing and more than 600 are known today, mainly, the HbC and HbE alleles, which arose and spread in Africa and in southeast Asia, respectively (12).
Mass spectrometry: a tool for enhanced detection of hemoglobin variants
In addition to new key concept boxes, this edition contains new chapters on laboratory analysis of hemoglobin variants
, lab approaches to serology testing, diagnosis and monitoring of viral hepatitis, and the newborn.
Hemoglobinopathies are a heterogeneous group of congenital defects involving the hemoglobin variants
, thalassemias and hereditary persistence of fetal hemoglobin (HPFH).
associated with hemolytic anemia, altered oxygen affinity and methemoglobinemias.
Other hemoglobin variants
and diagnostic mediums will be added to the suite of tests that a doctor will be able to perform using a small desk top test instrument.