sup] The combination of this mutation with the frame shift mutation in a compound heterozygote
may play a role in the slow clearance of conjugated bilirubin and/or the expression of enzymes involved in the cyclization of hydroxymethylbilane.
His pathergy test result was positive, and genetic analysis showed a compound heterozygote
mutation E148Q/P369S in the MEFV gene.
The compound heterozygote
state of Hb E [beta]-thalassemia results in a variable phenotype ranging from a complete lack of symptoms to transfusion dependency.
In addition, the relative frequency of this mutation also increases the probability of encountering a homozygote or a compound heterozygote
with other common hemoglobinopathies, in which the hematologic effects have not yet been described.
Only one other patient from Malaysia has been reported since the original report with a compound heterozygote
mutation of c.
One patient was a compound heterozygote
, positive for H63D and C282Y.
A compound heterozygote
HbS/[alpha]-thalassemia will have fewer symptoms than most HbS/[[beta].
Hemoglobin S/hemoglobin City of Hope compound heterozygote
with a SubSaharan genetic background and severe bone marrow hypoplasia.
Homozygote and compound heterozygote
with the presence of mutations in most cases have very severe hearing disorders up to deafness.
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).
Two more pregnancies were terminated when parents learned that the fetus was a compound heterozygote
for one severe and one mild mutation and was predicted to have mild CF or to be unaffected.
Further investigation using targeted gene capture and NGS showed that this patient was a compound heterozygote
for two mutations in the GJB2 gene, a condition that has been reported to cause HHI.