Biochemistry Assignment

By Roiya Jaferi Roll No. 68

Heme

Differentiate
Hematin
the hydroxide of heme Containing Ferritin (Fe3+) stimulates the synthesis of globin inhibits the synthesis of porphyrin component of cytochromes and peroxidases also used as a reagent 633.49g/mol produced in RBCs.

A deep red, nonprotein, component of hemoglobin made up of a protoporporphrin IX ring iron in ferrous (Fe2+) form. Used in Synthesis of hemoglobin and myoglobin 616g/mol produced in Liver

Heme

Hematin

DIRECT BILIRUBIN
Conjugated In the liver, bilirubin is conjugated with glucuronic acid by the enzyme glucuronyltransferase soluble in water Nontoxic it goes into the bile and out into the small intestine Can be excreted in urine Forms loose complex with albumins

INDIRECT BILIRUBIN
Unconjugated Heme turned to unconjugated bilirubin in reticuloendothelial cells of spleen Lipid soluble Toxic bound to albumin and sent to the liver Forms tight complex with albumin Can not be excreted in urine.

Mitochondrial & Cytosolic Steps of Heme Synthesis

Properties
Cause Type Of Bilirubin

Prehepatic Jaundice
Excessive Breakdown of RBCs e.g.; Erythroblastosis Fetalis Unconjugated

Hepatic Jaundice
Liver Diseases e.g.; Hepatitis, cirrhosis Unconjugated/conjugated

Urine Bilirubin
Fecal Urobilinogen Urine Urobilinogen

Absent
Increased Much Increased ++

Present
Reduced Increased +

Urine-bile Salts
Fecal Fat Stool/Urine Alkaline Phosphatase Van Den Bergh Test Liver Function Test

Absent
Absent Dark stool/urine normal Normal Indirectly Positive Normal

Present
Increased

High Mainly Directly Positive Impaired

Porphyria

Jaundice
a yellowish pigmentation of the skin and conjectiva of eyes due to accumulation of bilirubin. caused by hyperbilirubinemia Of Three types: Prehepatic Hepatic Post hepatic

A group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and heme. Defects of enzymes needed at various steps of heme synthesis result in distinct clinical syndromes known as porphyrias classified in two ways
symptoms
acute porphyrias Cutaneous porphyrias

The most pervasive sign of jaundice is a yellow tinge to the skin and sclera (whites of the eyes). This usually starts at the head and spreads down the body. Other symptoms of jaundice include: Pruritis (itchiness)
Fatigue Abdominal pain - typically indicates a blockage of the bile duct. Weight loss Vomiting Fever Paler than usual stools Dark urine

Pathophysiology

manifest with either neurological complications or skin problems or occasionally both

Porphyria
Symptoms: abdominal pain, rashes, reddish urine, and psychotic episodes Porphyrin testing is used to help diagnose and sometimes to monitor porphyrias Tests for neurologic porphyrias are given below:
A urine test for porphobilinogen (PBG), a porphyrin precursor, is the primary test. If the result of the PBG test is abnormal, urine porphyrin testing, which measures uroporphyrin and coproporphyrin, may be ordered to provide additional information on the type of neurologic porphyria that is present. A test to detect porphyrins in stool may be used to help distinguish between VP and HCP. Aminolevulinic acid (ALA), another porphyrin precursor, is used to diagnose the rare ALA dehydratase deficiency porphyria. ALA may be ordered along with PBG as part of the diagnostic workup, as it is usually elevated in all four of the neurologic porphyrias.

Jaundice
Doctors will most likely diagnose jaundice based on the patient's history and a physical exam, paying close attention to the abdomen. Doctors will be feeling for masses (tumors) in the abdomen and/or checking the firmness of the liver; a firm liver indicates cirrhosis, while a rockhard liver indicates cancer. The severity of jaundice is determined by several tests, the first of which is a liver function test to find out whether or not the liver is functioning properly. If the cause of your symptoms cannot be identified, your doctor may require blood tests to check levels of bilirubin and evaluate the composition of the blood.

Hemoglobin A Hemoglobin C
Major Hemoglobin in adults Composed of four polypeptide chains
two alpha and two beta chains held together by noncovalent interactions.

Transport oxygen to tissues and carbon dioxide from tissues to lungs.

Genetic Defect abnormal hemoglobin in which substitution of a glutamic acid residue with a lysine residue at the 6th position of the -globin chain has occurred reduces the normal plasticity of host erythrocytes causing a hemoglobinopathy cause a mild to moderate enlargement of the spleen, splenomegaly, as well as hemolytic anemia