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Download MBBS Physiology Presentations 51 Hemoglobinopathies Lecture Notes

Download MBBS (Bachelor of Medicine, Bachelor of Surgery) 1st Year, 2nd Year, 3rd Year and Final year Physiology 51 Hemoglobinopathies PPT-Powerpoint Presentations and lecture notes

This post was last modified on 08 April 2022

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Hemoglobinopathies (Abnormal Hb variants)

Different Hemoglobin combinations-Nr and Abn


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Sickle Cell Trait (

6

21 1 glu-val)

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?Sickle cell trait is the heterozygous form of the disease

?Represents a combination of HbA and HbS.

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?Individuals with HbS trait are usually asymptomatic or have

mild anemia.

Pathophysiology of Sickle Cell Disease

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HbC (2C2) -? Modification - Glutamic acid to lysine at 6
HbD (2d2) -?Modification - Glutamic acid to glutamine at 121
HbE (2e2) -?Modification - Glutamic acid to lysine at 26

Hb Abnormal variants- Quantitative Abnormality

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Decreased or absent synthesis of a particular globin chain (structurally normal)
i.e. Thalassemias
Thalassemia

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? Common in population of African descent, Southeast Asian, Italians,

Middle Eastern

? Two types-

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- thalassemia (Reduced production of - globin chains-HbH or Hb Bart's)

- thalassemia (Reduced production of - globin chains-Cooley's Anemia)

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-THALASSEMIA

-THALASSEMIA Trait (Minor): - / , - / -
-THALASSEMIA

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-THALASSEMIA Major (4, HbH disease): - - / - ,

Hemoglobin Barts (4 , y-globin tetramer, lethal):

With four-gene deletion: - -/- -

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-THALASSEMIA

? One or both -globin genes have mutations that cause partial ( +) or total loss ( O) of

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- chain production.

?Decreased synthesis of -globin chains disturbs the balance between the two chains

and -chains precipitate - producing membrane damage and early destruction.

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Normal Hb combinations/compounds

Oxyhemoglobin

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? Hb reacts with four molecules of O2 to form Hb4O8.

Hb4 + O2 Hb4O2 , Hb4O2 + O2 Hb4O4, Hb4O4 + O2 Hb4O6, Hb4O6 + O2 Hb4O8

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https://youtu.be/eor6EK_JP40
Carbaminohemoglobin

Carbaminohemoglobin is a compound of hemoglobin with CO2 (carbon dioxide), and is one

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of the forms in which carbon dioxide is transported in the blood at tissue level.

10% of carbon dioxide is carried in blood this way, bound to the globin protein.

Abnormal Hb compound-Methemoglobinemia

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?When Fe++ is oxidized to Fe ++ + form in Hemoglobin, this is called as Methemoglobin.

? The affinity of oxygen is impaired in ferric form of iron and binding of oxygen to methemoglobin

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results in an increased affinity for oxygen in the remaining heme sites that are in ferrous state within

the same tetrameric hemoglobin unit.


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Methemoglobinemia

Sign and Symptoms by Methemoglobin formation % :

?Less than 10% metHb - No symptoms

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? 10-20% metHb ?

? >50% metHb -

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Treatment

Carboxy-hemoglobin

Carbon monoxide is a colourless, odourless, and tasteless gas that is lighter than air and can be fatal to life.

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It has a greater affinity for hemoglobin ( 200 times) than oxygen does. It displaces oxygen and quickly bind

to Hb

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SOURCES


Carboxy-hemoglobin

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CLINICAL SIGNS

The signs of carbon monoxide poisoning vary with concentration and length of exposure.

TREATMENT

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Glycated hemoglobin

A very minute amount of hemoglobin A is continuously and

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slowly binds with glucose irreversibly and Non enzymatically with

each chain. This is known as `Glycated Hemoglobin' or HbA1c.

A higher glucose concentration results in more HbA1c.

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The normal reference range is approximately 4?5.9%
Self Asessment

Sickle cell trait is the ...............................of the disease, which has mild anemia.

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Decreased or absent synthesis of a particular globin chain that is structurally ...............

Thalassemis major has severe anemia, the type is ...........................................................due to

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enhanced hemolysis

Hemoglobin Barts has a ....................................and cannot release oxygen to tissues.

-thalassemia major is also called .................. and Microcytic hypochromic anemia

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