Thalassemia Patients and Friends

Discussion Forums => Miscellaneous Questions => Topic started by: Manal on November 17, 2006, 01:28:01 PM

Title: HB Knossos
Post by: Manal on November 17, 2006, 01:28:01 PM

Dear all


Has any body got any information about HB Knossos? Is it true that it makes one a silent carrier of thal?

Manal

Title: Re: HB Knossos
Post by: jzd24 on November 18, 2006, 02:52:01 AM

Hi Manal,
     I have never heard of this. I am curious to find out what it is.   Jean

Title: Re: HB Knossos
Post by: Andy Battaglia on November 18, 2006, 05:09:27 AM

Hi Manal,

Hb Knossos is a recently discovered thal trait that is grouped with HbE and Malay. It is a silent carrier gene, which means it is not easily detected. Combined with a beta thal gene it can lead to thal intermedia. It has also been observed as causing intermedia when it is homozygous. It has a low affinity for oxygen.

from http://lib.bioinfo.pl/pmid:7173395

Quote

A new electrophoretically silent hemoglobin variant is described that produces the classical phenotype of beta thalassemic intermedia in association with beta thalassemia trait. This variant has the expression of a silent beta thalassemia trait. The abnormal hemoglobin was detected by acid-urea-Triton-acrylamide electrophoresis and further demonstrated by isoelectric focusing. The amount of the variant in carrier is approximately 30% of the total hemoglobin. No instability was found. Absence of hemoglobin A in the propositus blood facilitated structural studies. Peptides maps were normal but analysis of individual peptide spots showed an Ala leads to Ser substitution in the beta T3. This variant has been previously called Hb Knossos (beta 27 (B9) Ala leads to Ser).
   

Title: Re: HB Knossos
Post by: Manal on November 18, 2006, 11:03:43 AM

Dear Jean

Me neither, but this is one of my son's genes.

Dear Andy

Thanks alot for the information. As usual you have answers for everything :wink Thanks. Does this mean that 30% of my son's blood lack oxygen because of HB Knossos and the rest of the blood is imature because of the other gene of beta thal (IVS I-6 )???

Manal