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“Hemochromatosis (type-2A)”, Victor McKusick, Mendelian Inheritance in Man, 1966.

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Here I present: “Hemochromatosis (type-2A)”, Victor McKusick, Mendelian Inheritance in Man’, 1966.

INTRODUCTION.

Hereditary Hemochromatosis (HH) consists of four (4) types; and, the  type-two (#2) has A & B forms (shown ABOVE).
Juvenile hemochromatosis
(also known as hemochromatosis type-2A) is a rare form of hereditary hemochromatosis, which emerges in young individuals, typically between 15 and 30 years of age, but occasionally later.  It is characterized by an inability to control how much iron is absorbed by the body, in turn leading to iron overload, where excess iron accumulates in many areas of the body and causes damage to the places it accumulates.


Juvenile hemochromatosis type-
2A (HFE2A) is caused by homozygous or compound heterozygous mutation in the gene encoding hemojuvelin (HJV) on cytogenetic location 1q21.1 and genomic coordinates 1:146,017,470-146,021,735  . The screenshot of the HJV gene  4,266 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides HJV in the 1q21.1 cytogenetic location are listed BENEATH.

Coordinate  Symbol  Genomic Name.
1:145,911,348  PEX11B Peroxisome biogenesis 11B
1:145,921,556  RBM8A  RNA-binding motif protein 8A
1:145,964,690  POLR3GL Polymerase III, RNA, subunit G-like
1:145,992,435  TXNIP Thioredoxin-interacting protein
1:146,017,470  HJV Hemojuvelin
1:146,064,699  NBPF10 Neuroblastoma breakpoint family, member 10
1:146,148,865  NOTCH2NLA NOTCH2 N-terminal-like protein A
1:146,486,332  HYDIN2 HYDIN axoneme central apparatus protein-2­
1:146,938,324  NBPF12 Neuroblastoma breakpoint family, member 12
1:147,155,106  PRKAB2 Protein kinase, AMP-activated, noncatalytic, β-2

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