Juvenile hemochromatosis locus maps to chromosome 1q

Article Abstract:

The locus for juvenile hemochromatosis (JH), an autosomal recessive disorder, maps to chromosome 1q. Affected members in JH families have neither linkage to chromosome 6p nor mutations in the HFE gene. A genomewide search was carried out to map the JH locus in nine families, six of with were consanguineous and three of which had multiple affected members, and homozygosity mapping was done in consanguineous families. The JH locus does not correspond to the chromosomal localization of any gene known to be related to iron metabolism. Patients in affected families can now be recognized at an early age. JH leads to severe iron loading in the second-third decades.

United Kingdom, Hemochromatosis

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Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity

Article Abstract:

Microdeletions which are within the Diamond-Blackfan anemia (DBA) 19q13 locus are discussed, and evidence for genetic heterogeneity is given. The families analyzed with polymorphic 19q13 markers, including a newly identified short-tandem repeat in the critical gene, included 29 multiplex DBA families and 50 families with sporadic DBA cases.

United States, Australia, Canada, Germany, France, Sweden, Statistical Data Included, Anemia in children, Pediatric anemia

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