HB normal and Hb abnormal Kourosh goudarzipour Pediatric congenital hematologic disorders research center Oct 2017

Primary structure

heme

Oxygen dissociation curve

Bohr effect

Hb a1c , the normal range for the hemoglobin A1c level is between 4% and 5.6%. Hemoglobin A1c levels between 5.7% and 6.4% mean you have a higher change of getting of diabetes. Levels of 6.5% or higher mean you have diabetes.

Glycation (sometimes called non-enzymatic glycosylation) is the result of the covalent bonding of a sugar molecule, such as glucose or fructose, to a protein or lipid molecule, without the controlling action of an enzyme. Glycation may occur either inside the body (endogenous glycation) or outside the body (exogenous glycation). It is a haphazard process that impairs the functioning of biomolecules, and does not require the expenditure of ATP synthase (the energy storing molecule).

Glycosylation, in contrast, is the enzyme- mediated ATP-dependent attachment of sugars to protein or lipid molecules at defined sites on the target molecule. It is an important form of post-translational modification of proteins and is required for the functioning of the mature molecule.

Lab evaluation

O2 curve

Uv SPECTROSCOPY The heme moiety of Hb absorbs visible light and therefore is responsible for the distinct color of the protein . Alterations in the electron configuration of heme, such as those caused by changes in the iron oxidation produce characteristic color changes . HbO2 (Fe[II]–O2 is Red and frric type is darker.

Stability test Unstable Hbs precipitate within cells and are deposited on the inner plasma membrane Hb stability tests measure the propensity for Hb to denature upon exposure to various stresses including heat, isopropanol, mechanical agitation, and zinc acetate. In all of these tests, unstable variants denature at lower thresholds than normal Hb.

pbs Spherocytes, hypochromia, bite cells, blister cells, and altered red-cell size . Heinz body test .

Clinical management most Hb variants are either asymptomatic or produce mild clinical effects that require only counseling and supportive care . Indeed, one important reason to diagnose and characterize rare Hb variants is to prevent unnecessary invasive procedures. Hemolytic anemia:folate ,transfusion,splenectomy,hydroxyurea, HSCT

High affinity O2:no treatment,may be phlebetomy when symptom.

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