05 g/L and also appeared to be a compound heterozygote
for the [M.
First, other HFE genotypes, including the compound heterozygote
encoding the Cys282Tyr and His63Asp mutations, have been associated with an HH phenotype, although individuals with such genotypes accumulate less iron than Cys282Tyr homozygotes (1-3).
Recently the first compound heterozygote
for PCSK9 loss-of-function mutations was described.
However, subsequent genetic analysis remains demanding because >400 mutations within ATP7B have been already recorded, and most patients are compound heterozygote
We analyzed 3 peptides to measure the [delta]-chain, so that even in compound heterozygote
[delta]-chain mutations, 1 of the transitions should still give the correct value.
In a WD compound heterozygote
, if the wild-type allele fails to be amplified by PCR, DNA sequencing or restriction analysis of the PCR products will show apparent homozygosity of the corresponding mutant alleles.
In the control group, we found a compound heterozygote
for the (TA)5 and (TA), alleles associated with homozygosity for the c.
7-kb amplicons from an R117H/[DELTA]F508 compound heterozygote
If the variant is in conjunction with a target mutation on the opposite allele, the genotype could be reported as a homozygous mutant, rather than a mutant/variant compound heterozygote
Only one other patient from Malaysia has been reported since the original report with a compound heterozygote
mutation of c.
A compound heterozygote
HbS/[alpha]-thalassemia will have fewer symptoms than most HbS/[[beta].
Rees et al (13) reported that the microcytosis is attributed to the [beta]-thalassaemic nature of the [beta]E gene, whereas the in vitro instability of HbE does not contribute to the phenotype, however, the compound heterozygote
state HbE/[beta]-thalassaemia results in a variable, and often severe anaemia, with the phenotype ranging from transfusion dependence to a complete lack of symptoms (13).