Hemoglobin Sickle-D Disease- For Dr Hira if she is around

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Hemoglobin Sickle-D Disease- For Dr Hira if she is around

Post  Abbas on Wed Dec 29, 2010 6:58 pm

uploading.com Electrophoretic%2BPatterns%2Bof%2BHemoglobins.pdf/

uploading.com Abnormal%2BHemoglobins.pdf/

uploading.com haemoglobin%2BSD%2Bdisease-Behrain.pdf/

uploading.com Lab%2BDiagnosis%2Bof%2BSickeling%2BHemoglobinopathies.pdf/

I did a little bit of search and have uploaded a few articles, which are mostly on subscription, for you to see. DO NOT go through the electrophoresis articles in detail as these are just to let you know how in complex hemoglobinopathies electrophoresis technique is altered to unmask undetectable hemoglobin (in this case Hemoglobin D)
Hemoglobin D is a separate hemoglobinopathy itself. With almost 30 variants known, one was originally described in Indian Punjab (D-Punjab), possibly present in our Punjab as well.
As I suspected Hb D has electrophoretic mobility exactly mimicking Hb S and they have to be separated by various techniques, which a hematologist must know, the commonest one is changing electric field and medium pH (generally to acidic one)
So the patient is otherwise likely to have what is known as Sickle Hemoglobin-D disease (also called Hb SD disease), with many of the features of sickle cell anemia, but a relatively milder course and less sickling crisis. On its own even Hb D homozygotes are mildly anemic and do not have sickling crisis. FORGET ABOUT THALASSEMIA IN THIS PATIENT.
However in this patient existence of both traits is not possible, because both are alterations of Globin chain and a person can have only 2 globin chains, one coming from each parent. So in a patient with SD disease one of the parents is bound to have sickle cell trait (generally silent) and other D trait (absolutely silent) and 25% of children have chances of having SD disease BUT WITH NO HbA (of course one globin chain is S and the other is D). Such children may, however, have hereditary persistence of HbF.
His electrophoretic pattern (about 30% abnormal Hb, 70% Hb A and 1.6% HbA2 as far as I remember)suggests a trait as in both S and D disease traits abnormal Hb is close to 30-40%. This patient may have Sickle cell trait which under some conditions can sickle in which case their sickling test should generally be positive. Hb D trait is absolutely silent. Having a combination of both generally would not let normal HbA to be present.
BOTTOMLINE: Complex hemoglobinopathies determination requires expert hematologist with knowledge of hemoglobinaopathies and knowledge of changing electrophoretic patterns (difficult to find here except the one I told you). It requires direct discussion with hematologist (again difficult). Here I remember Dr. Samina (the hematologist at KEMC). Although not so much an expert, at least she would show interest. The case is interesting as, if found to have both SD, it would be one of the rare cases of such combination as only a few have been described thus far. However 70% HbA, if true, makes this possibility tenuous.
And finally such cases are not solved by sitting on table and using imagination lol! (not intended at you)

Abbas

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wowow

Post  Dr Hira Tariq on Thu Dec 30, 2010 2:13 pm

hahahha...oh my God! Boss you r too good. Very Happy
finally we r left with his Hb analysis by HPLC and genetic analysis by AKU. but we cant proceed as he has been transfused.so we ll wait for 6 weeks. and this will be a case report Inshallah!
wish to see u at CPC on 3rd. hope i ll be able to justify all these points there.

Dr Hira Tariq

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HPLC and Genetic Analysis

Post  Abbas on Thu Dec 30, 2010 6:07 pm

Dear Dr. Hira,
As I mentioned genetic analysis is in its infancy in this country. By the way our greatest of the great institution is the first one to have a department of Molecular Biology in the Asia pacific Region headed by no other than Dr. Tariq Wasim as Director-Surprise surprise What a Face What a Face . Genetic/chromosomal analysis is done by a few institutions here including AKU, CMH Rawalpindi and CAMB (Punjab University, Lahore) for a few diseases only. CAMB mainly does Alpha Thalassemia analysis as a part of mega project funded by UNESCO. AKU goes a step further to a few diseases, but only does analysis of Beta Thalassemia as far as hemoglobinopathies are concerned. I am copying below the molecular biology services at AKU website
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Clinical laboratories of Aga Khan University Hospital have established a Molecular Pathology section in 1995 that functions as a laboratory that provides testing and expertise for interpretation of molecular diagnostics besides support for investigational research. The scope of our molecular pathology testing includes infectious diseases, oncology, molecular genetics and histocompatibility analysis. A variety of both qualitative and quantitative virology tests are offered that are based on viral nucleic acid detection using polymerase chain reaction and oligonucleotide probe hybridization. Hepatitis viruses (B, C and G types), Herpes Simplex Virus, Cytomegalovirus, Parvovirus B19, Epstein Barr virus, Cremeon Congo hemorrhagic fever virus represent the major viral types analyzed in Molecular Pathology Laboratory. For the diagnosis of hepatitis, this facility offers qualitative RNA detection, quantification of viral load and determination of Hepatitis C virus serotypes. These tests help clinicians for the correct diagnosis of Hepatitis C and monitoring of its treatment. Very soon RNA based genotyping of Hepatitis C will be added to this list.

DNA technology has provided powerful tools for genetic diagnosis, especially of single gene disorders such as thalassemia, cystic fibrosis, congenital adrenal hyperplasia, etc. Now it is possible to diagnose and correct genetic defects even in a developing fetus. Presently, Molecular Pathology Laboratory offers prenatal diagnosis for ß-thalassemia and so far more than 150 tests have been successfully performed. In addition, ?F508 mutation screening is also available for prenatal diagnosis. In not distant future, Fragile X and Duchenne muscular dystrophy tests will be provided for patient care. Human leukocyte Antigen (HLA) matching is an important criterion for organ transplant. Molecular Pathology Laboratory provides low to intermediate resolution nucleic acid based typing facility for HLA class I and II loci. HLA-A, -B, -C, -DR, -DQ alleles are typed using PCR-SSP technology obtained from leading manufacturers. The vision of Molecular Pathology Laboratory is to make available latest and high quality DNA diagnostics to improve health.
AKU: 2010
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High Performance/Pressure liquid chromatography has in general proved superior in evaluation of complex hemoglobinopathies compared to convention electrophoresis, but the problem is expertise in its application and interpretation. In this country things should come out of the machine with diagnosis written on it. If results still remain to be interpreted by a person (who generally happens to be one of our proud country fellow) its better avoided as instead of making a correct diagnosis, one may be misled into wrong one. But it should not matter as being Muslim our aim is not to gain expertise in HPLC invented by western kafirs, but to be better Muslims. Till a couple of years back nobody would do HPLC for hemoglobin even on request. It needs to be checked with AKU now. Otherwise conventional electrophoresis done by AKU may still be helpful.
As for the presentation, however, say anything you like: who cares and who knows. For example if you say Hb SD disease with 70% HbA, done by HPLC and confirmed by genetic analysis, I bet not even a single person from the whole floor will question it (I think you are talking of medical floor meeting). But if we want it to be published by any respectable journal (not the one like Annals of KEMC (U), the gutter where most of us seniors throw our publications to be called authors of research publications) we really need to explore the above possibilities again as I am talking all of this as of about 2-3 years back when I kept exerting to prove a few cases of Hemoglobinopathies and of cystic fibrosis for about a year.

Abbas

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Re: Hemoglobin Sickle-D Disease- For Dr Hira if she is around

Post  Dr Hira Tariq on Fri Dec 31, 2010 11:00 am

silent i m speechless.

Dr Hira Tariq

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Re: Hemoglobin Sickle-D Disease- For Dr Hira if she is around

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