A 35 year old woman of Chinese ethnic background (Guangdong province) presented with a near normal Haemoglobin level of 112 g/L. On performing a Full Blood Count (FBC) she was found to have an erythrocyte Mean Cell Volume (MCV) of 64.9fL and a Mean Cell Haemoglobin (MCH) value of 20.6 pg. A family study was performed on her father, mother and younger brother, including capillary electrophoresis. The following values were found: Father Mother Brother Patient Normal Range
Enzyme kinetics
In biochemistry, enzymes are proteins that act as biological catalysts. Catalysis is the addition of a catalyst to a chemical reaction to speed up the pace of the reaction. Catalysis can be categorized as either homogeneous or heterogeneous, depending on whether the catalysts are distributed in the same phase as that of the reactants. Enzymes are an essential part of the cell because, without them, many organic processes would slow down and thus will affect the processes that are important for cell survival and sustenance.
Regulation of Enzymes
A substance that acts as a catalyst to regulate the reaction rate in the living organism's metabolic pathways without itself getting altered is an enzyme. Most of the biological reactions and metabolic pathways in the living systems are carried out by enzymes. They are specific for their works and work in particular conditions. It maintains the best possible rate of reaction in the most stable state. The enzymes have distinct properties as they can proceed with the reaction in any direction, their particular binding sites, pH specificity, temperature specificity required in very few amounts.
A 35 year old woman of Chinese ethnic background (Guangdong province) presented with a near
normal Haemoglobin level of 112 g/L. On performing a Full Blood Count (FBC) she was found to
have an erythrocyte Mean Cell Volume (MCV) of 64.9fL and a Mean Cell Haemoglobin (MCH)
value of 20.6 pg.
A family study was performed on her father, mother and younger brother, including capillary
electrophoresis. The following values were found:
Father Mother Brother Patient Normal Range
Age 74 69 32 35
Hb (g/L) 98 107 113 112 133-167 (m)
118-148 (f)
MCV (fL) 69 89.4 62.7 64.9 80-100
MCH (pg) 22.5 29.2 20.1 20.6 28-32
HbA (%) 98.0 97.2 97.8 98.0 97-98
HbA2 (%) 2.0 2.7 2.2 2.0 1.5-3
RBC (x1012/L) 4.36 3.67 5.63 5.44 4.3-5.0 (m)
3.8-4.8 (f)
Ferritin (ug/L) 65 63 85 110 41-350
Summarise these results for each member of the family and describe features of the erythrocytes
that you may expect to observe on a stained peripheral blood smear.
Provide a provisional diagnosis of the condition affecting the family, describe further laboratory
tests that could be performed to confirm your diagnosis and describe potential genetic problems
associated with this diagnosis
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