Friday, September 26, 2008

Scrapbooking - you never know what might happen!

You never know what surprises life has in store for you....

When I was a teen, I suffered from anemia.  So, the military doctors did what all good military doctors do....they gave me iron.  Oh, they  never looked for the reason for the anemia, but they did a bang up job treating the symptoms.  Until it made me sick.  Really sick. I just stopped taking the iron pills.

When I was in my early twenties, I began to have fainting spells.  I was sent to a wonderful teaching hospital in Washington state.  After some basic blood work they sent me to  meet my new doctor......Thalia Staminopolofis...we called her Dr. Stam, for obvious reasons.  She was actually interested in finding out why I was anemic.  It is a miracle that I survived some of the "doctors" in training at this teaching hospital.  I still wonder about one young man in particular...did he ever graduate?  Dr. Stam asked him to monitor my heart beat...through my carotid artery.  We'll just say he was a bit over zealous...trying to make a good impression.... and decided to monitor BOTH arteries.  It took just a few seconds, after he cut off the blood flow to my brain, for me to loose consciousness and hit the floor. I came around in Dr. Stam's arms listening to a string of foreign words that I am sure were more than a little off color!  I felt so sorry for the young man.  It really shook him up...I think he thought he'd killed me :)

What Dr. Stam found was that I had an inherited genetic blood disease....Beta Thalassemia, Minor.  It was one of the good times not to make the majors...that might have meant death before age twenty!   Here is what Wikipedia says about Thalassemia:
Thalassemia (from Greek θαλασσα, thalassa, sea + αίμα, haima, blood; British spelling, "thalassaemia") is an inherited autosomal recessive blood disease. In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. Reduced synthesis of one of the globin chains can cause the formation of abnormal haemoglobin molecules, and this in turn causes the anemia which is the characteristic presenting symptom of the thalassemias.

Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell anemia (a haemoglobinopathy) is a qualitative problem of synthesis of an incorrectly functioning globin. Thalassemias usually result in underproduction of normal globin proteins, often through mutations in regulatory genes. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves [1]. The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Thus, some thalassemias are hemoglobinopathies, but most are not. Either or both of these conditions may cause anemia.

The disease is particularly prevalent among Mediterranean peoples, and this geographical association was responsible for its naming: Thalassa (θάλασσα) is Greek for the sea, Haema (αίμα) is Greek for blood. In Europe, the highest concentrations of the disease are found in Greece, including the Greek islands; in parts of Italy, in particular, the lower Po valley; in southern Italy; and in the Italian islands. Sicily, Sardinia (Italian islands), Corsica (French island) and Cyprus and Crete (Greek islands) are heavily affected in particular; the higher incidence in these islands likely is because of the higher inbreeding that occurs in isolated populations. But Asia now has even greater prevalence, with the highest concentration of carriers (18% of the population) in the Maldives.

Beta (β) thalassemias


Beta thalassemias are due to mutations in the HBB gene on chromosome 11 (Online 'Mendelian Inheritance in Man' (OMIM) 141900), also inherited in an autosomal-recessive fashion. The severity of the disease depends on the nature of the mutation. Mutations are characterized as (βo) if they prevent any formation of β chains; they are characterized as (β+) if they allow some β chain formation to occur. In either case there is a relative excess of α chains, but these do not form tetramers: rather, they bind to the red blood cell membranes, producing membrane damage, and at high concentrations they form toxic aggregates.

Any given individual has two β globin alleles.

  • If only one β globin allele bears a mutation, the disease is called β thalassemia minor (or sometimes called β thalassemia trait). This is a mild microcytic anemia. In most cases β thalassemia minor is asymptomatic, and many affected people are unaware of the disorder. Detection usually involves measuring the mean corpuscular volume (size of red blood cells) and noticing a slightly decreased mean volume than normal. The patient will have an increased fraction of Hemoglobin A2 (>2.5%) and a decreased fraction of Hemoglobin A (<97.5%).

  • If both alleles have thalassemia mutations, the disease is called β thalassemia major or Cooley's anemia. This is a severe microcytic, hypochromic anemia. Untreated, this progresses to death before age twenty. Treatment consists of periodic blood transfusion; splenectomy if splenomegaly is present, and treatment of transfusion-caused iron overload. Cure is possible by bone marrow transplantation.

  • Thalassemia intermedia is a condition intermediate between the major and minor forms. Affected individuals can often manage a normal life but may need occasional transfusions e.g. at times of illness or pregnancy, depending on the severity of their anemia.


The genetic mutations present in β thalassemias are very diverse, and a number of different mutations can cause reduced or absent β globin synthesis. Two major groups of mutations can be distinguished:

  • Nondeletion forms: These defects generally involve a single base substitution or small deletion or inserts near or upstream of the β globin gene. Most commonly, mutations occur in the promoter regions preceding the beta-globin genes. Less often, abnormal splice variants are believed to contribute to the disease.

  • Deletion forms: Deletions of different sizes involving the β globin gene produce different syndromes such as (βo) or hereditary persistence of fetal hemoglobin syndromes.


This disease has stricken many famous individuals, most notably Brian Taylor, USUHS.

All that scary sounding stuff boiled down to this for me....I was anemic, I couldn't take iron and usually caught everything that was going around.  To this day, anytime my blood is tested they say "Hey!  Your red blood cells aren't round and red like normal!" They wanted to know where I got it and so my parents were tested, results showed that it came from my Dad.   His Mom was tested (his Dad died before he was born) and she was negative...so evidently this came from my Dad's Dad.  Then, as each of my children were born, they were tested.  Yep!  We beat the odds...we ALL got it!  My brother was also tested....he got it too.

As I learned more about natural remedies and strengthening the immune system, we stayed healthier.  Once we moved to our farm, ten years ago, and began raising our own food, got out of the pollution (body and soul) of the city and lived closer to the land, we all got much healthier and now rarely have a problem.

Then I began scrapbooking..  Some segue eh?......this will make sense.  Just trust me on this.  The first book I worked on was our family history.  When my Grandma died, my Grandpa went through a drawer of old pictures and helped me to put names to faces.  Then a quick google search of my maiden name turned up an amazing gentleman who had been working on our family history for decades.  It was like having my own personal geneology assistant.  He had done all the work....I just had to match the names and pictures (which he also had a ton of) to the names and pictures I had.  It was like a beautiful jigsaw puzzle that comes together so easily at the end.  He was unaware of our portion of the family so I was able to help him a bit.  Turns out that his great grandfather and my great, great grandfather were brothers.

So you ask, my dear confused readers, what does Thalassemia have to do with Scrapbooking....aaaahhhhh, she said with a twinkle in her eyes...stay tuned for the rest of the story!

5 comments:

  1. Cheri, did anyone ever tell you that you have a bit of a little orneriness in you? =)

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  2. Hi Marci!
    It has been mentioned that I might be a bit of a stinker from time to time.... :O
    Cheri

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  3. my goodness, you're about as bad as my favorite tv show leaving us hanging at the end until "next time". ;) hope all is well with you guys! love ya!!

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  4. I thought autosomal recessive traits needed to have a gene from each parent, like blue eyes, hemophilia etc? That's why hemophilia was all through the royal houses of Europe... they carried the same genes from Queen Victoria as they were intermarried. So wouldn't it need to come from both parents? I'm not being argumentative, I'm genuinely curious (I have a medical background). Sorry they tried to strangle you in my home state! LOL

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  5. Theresa,
    If I remember correctly, what they told me was that if only one parent had Thalassemia the child would have the Minor form of the disease. If both parents carried it, then you had a 25% chance of having a child with the major form of the disease also known as Cooley's disease.
    Cheri

    ReplyDelete

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