H63D syndrome is a serious and clinically progressive disorder of iron
metabolism caused by non-transferrin-bound iron (NTBI). In 2019, after
scientists from around the world joined together to form the H63D
Syndrome Research Consortium (a non-profit entity), a consensus paper
“H63D Syndrome” was adopted at a meeting in Oslo in December 2019.
With this new paper, we summarize what the leading experts in the field
know about the syndrome in 2021.
Researchers have noted that cold temperatures may have had an impact on hunter-gatherer decisions concerning raw material selection for projectile points. This line of reasoning has been used to explain the phenomenon of projectile points of different materials occurring during the same time period in archaeological contexts that exhibit extreme seasonality. Cold temperatures are assumed to affect cryptocrystalline brittle solids adversely, whereas organic and composite projectiles are more resilient. Here, an experiment was designed to test the brittleness of stone and antler composite projectile points subjected to different temperatures. It was demonstrated that cold temperatures do not impact projectile point brittleness. However, differences in projectile raw material type were found to fracture differentially suggesting other probable factors associated with projectile point raw material selection.
Based on an analysis of anonymized medical records from four hospitals
in Asia and Africa, we succeeded in identifying symptoms typical for
narcolepsy (with cataplexy) that are regularly overlooked because they
are masked by the two severe leading symptoms. Our results do not differ
between primary and secondary cases of narcolepsy.
H63D syndrome is a unique phenotype (clinical picture) of a homozygous
mutation of the HFE gene H63D, which is otherwise known to cause at most
mild classical hemochromatosis. H63D syndrome is associated with iron
overload in the body (especially in the brain, heart, liver, skin and
male gonads), but in the form of non-transferrin bound iron (NTBI), not
as ferritin. It is an incurable multi-organ disease, leading to
permanent disability, which can only be influenced by early diagnosis
and a very careful reduction of iron intake (under constant monitoring)
as early as in childhood and youth. Our goal was to better highlight the
characteristic symptoms of this rare disease to further reduce the risk
of missing diagnosing this dangerous condition correctly, even on a
primary care level.
H63D syndrome is a phenotype of a homozygous mutation of the HFE gene H63D, which is otherwise known to cause at most mild classical hemochromatosis. H63D syndrome leads to an iron overload in the body (especially in the brain, heart, liver, skin and male gonads) in the form of non-transferrin bound iron (NTBI) poisoning. Hallmark symptoms and causal factor for H63D syndrome is a mild hypotransferrinemia with transferrin saturation values >50%. H63D syndrome is an incurable multi-organ disease, leading to permanent disability. Our objective was to find out how many carriers of a homozygous H63D mutation develop H63D syndrome. For this purpose, we systematically evaluated the medical records of homozygous carriers of the mutation. We found the syndrome in about 10% of patients with a homozygous mutation. Since a homozygous mutation on the HFE gene H63D is relatively common, the results of our study suggest many undetected or misdiagnosed cases.
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