Genetics Disorders Caused by Abnormalities in Heme Production
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Porphyria is a group of genetic disorders caused by abnormalities in heme production. Heme is essential for many organs and processes in the body. There are two major types of porphyria - cutaneous porphyrias which affect the skin, causing it to blister in sunlight; and acute porphyrias which affect the nervous system and can cause abdominal pain, vomiting, and mental changes. Several specific types are described in detail, including the deficient enzyme, responsible gene, and inheritance pattern. X-linked sideroblastic anemia is also discussed as another related but separate condition.
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Genetics Disorders Caused by Abnormalities in Heme Production
- 1. Name : Fatima Al-Na’imat. Course : General Genetics.
- 2. What Is Porphyria? Porphyria is a group of genetics disorders caused by abnormalities in the chemical steps that lead to heme production. Other names: Hematoporphyria porphyrin disorder
- 3. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin.
- 5. Types of Prophyria Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. They are two major types, cutaneous porphyrias and acute porphyrias.
- 6. Cutaneous Porphyrias Primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth.
- 8. Type of Porphyria Deficient Enzyme Responsible Gene Type of Inheritance Congenital erythropoietic porphyria uroporphyrinogen III cosynthase UROS gene, on chromosome 10 Autosomal Porphyria cutanea tarda uroporphyrinogen decarboxylase (~50% deficiency) UROD gene, Chromosome 1 Autosomal dominant recessive
- 9. Variegate porphyria protoporphyrin PPOX gene On ogen oxidase chromosome 1 Erythropoietic ferrochelatase protoporphyria Autosomal dominant FECH gene Autosomal on dominant chromosome 18 Hereditary coproporphyrin CPOX gene coproporphyria ogen oxidase chromosome 3 Autosomal dominant
- 10. Acute Porphyrias Primarily affect the nervous system. Episodes of acute porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations.
- 11. Type of Prophyria Deficient Enzyme Responsible Gene Type of Inheritance ALAD porphyria deltaaminolevulinic acid dehydratase ALAD gene on chromosome 9 Autosomal recessive acute intermittent porphyria hydroxymethylbila HMBS gene ne (HMB) on chromosome 11 synthase or PBG deaminase Autosomal dominant hereditary coproporphyria coproporphyrinog en oxidase CPOX gene on chromosome 3 Autosomal dominant Variegate porphyria protoporphyrinoge PPOX gene n oxidase On chromosome 1 Autosomal dominant
- 12. Other type that doesn’t belong to the previous categories is X-linked sideroblastic anemia (XLSA). Related genes are ALAS2 gene which found on Xchromosome, the deficient enzyme is aminolevulinate, delta-, synthase 2. It’s inherited in an X-linked recessive pattern.
- 13. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs.