Hello

Hello,

I am 23, living in the US, and my family recently found out we have some sort of hemoglobin disorder trait in our family line.  Actually, we first found out about 15 years ago after the birth of my brother, and state-testing found him to be a carrier of trait, but our pediatrician apparently said it didn't mean anything, so my parents ignored it. (Which is why I'm not 100% positive of what trait it even is).

My cousin recently had a baby though, and she was also diagnosed with something.  We won't find out for sure for a couple months.  At first they had said she had the disease/disorder, but now apparently they're thinking it's just trait?  They also seem to be thinking it's Beta Thalassemia, though, as I've said, it remains to be seen.

As my brother  and my cousin and her baby have this trait, I know my mother has it as well, which makes sense as she's always tended to be anemic.  My cousin was also anemic during both her pregnancies.

I have several questions, but the first is, is there anyone here who does not have a *known* ancestral link to an ancestor of Mediterrainian, African, or Asian origin who has this?  As a genealogist for many years, I can tell you my mother's family is strictly German and Irish, all recent immigrants to the US within the last 100 - 150 years.  From what I've seen online, and from what the doctors have told my cousin and her husband, this is highly unusual (I think his exact words were, he's never seen it).

I am planning on getting tested, ASAP, but I'm wondering, do you have to tell the doctors what trait to look for, or can you just ask for a hemotology electrophorisis test, and they'll check for everything??  My two other brothers hopefully will get tested soon as well.  Unfortunately, we were all born before our state made sickle cell testing mandatory for newborns.

Also, just wondering, but is low body temp a symptom of beta thal trait at all?  My normal body temp tends to run low, (ie, below 98F), as does my mother's.  Another thing that's always happened to me, is a tendancy to be lightheaded and dizzy feeling.  Many times when I stand up, everything goes black and then slowly comes into focus.  The same thing happens on certain (tending towards most, recently) roller coasters.  I know my BP is normal (110/70), I also once had my heart checked (heart sonogram I believe?) to make sure that wasn't the problem.  It wasn't.  As you can see, my doctor had no idea what was causing this.

Anyway, thanks for any answers you may be able to provide!

Hi ker8,

All of the symptoms you mention are typical of thal minor. Low body temp, dizziness, lightheaded feeling, anemia during pregnancy and other symptoms are all found in thal minors. A hemoglobin electrophoresis should be able to verify what the hemoglobin disorder is. Even though it is not commonly found in the ethnic backgrounds that you mention, it is sometimes found in Northern Europeans, as somewhere in the background there may be some ancestor who was from the thalassemia regions. Thal was spread around the world by explorers, invaders and traders, so few areas on earth have been left untouched by thalassemia. The genes in your family responsible for this may be the result of something from hundreds of years ago, so the more recent genealogy would not explain it. There are also some more rare blood disorders that are found in Northern Europeans, so this could also be a possibility.

The test should reveal what it is and if it is any genetic disorder, the most important thing is awareness that when two thal minors have a child, there is a statistical 25% chance of having a major, so testing of both partners is suggested when either is suspected to be a carrier. Many doctors are not aware that thal minor can cause symptoms and often neglect to inform the carriers of the dangers of having a child with another carrier, so if it is confirmed, all members of your family should be tested and made aware that any future partners should also be tested for those who are carriers.

Thank you for answering my questions.

Hemoglobin elecrtophorisis, that's what I meant, lol....I knew hemotology electrophorisis didn't look right,  


That would be the interesting story, if I could figure out where this came from.  It's just par for the course though.  I will say, some in my family do tend to look "ethnic", so to speak.  I once had a friend look at a pic of my family and say that it was nice my parents had adopted an Asian boy, lol.  That is my brother with trait.  He most definitely does not look 100% Asian, but I could see, maybe 1/4 or 1/8 (He could almost be one of Jon and Kate's kids, lol).  It's just that he got a small heart-shaped face and slightly darker skin from my mother's father, slightly almond-shaped eyes from my father, and an olive undertone from my father's mother.  My cousin, who's daughter has tested positive, has also been asked on many occasions where she's from b/c people think she's anything from Spanish, to Italian, to Hawaiian.  Both of them have very dark brown hair and very dark brown eyes.  But, for my cousin, I think the main reason people think this is b/c she tans WAY too much.

Anyway, I'm writing wayy too much and I know it, lol.  I'll save the rest till later, lol. 

Fingers crossed the baby comes back trait only!

my mother's family is strictly German and Irish

While reading this two things popped up in my head:
1) PK (pyruvate kinase deficiency) since it's a North-Western-European disease.
2) Hemachromatose, but it doesn't lead directly to anemia.

I've heard testing is a difficult thing in USA. I mean in relating with keeping your insurance. Can't you do somewhere only a simple tests? I know there exists private compagnies where you can let test your blood and even do a gene tests without everyone knowing it is. But it cost a bunch of money.

While reading this two things popped up in my head:
1) PK (pyruvate kinase deficiency) since it's a North-Western-European disease.
2) Hemachromatose, but it doesn't lead directly to anemia.

I've heard testing is a difficult thing in USA. I mean in relating with keeping your insurance. Can't you do somewhere only a simple tests? I know there exists private compagnies where you can let test your blood and even do a gene tests without everyone knowing it is. But it cost a bunch of money.

Thank you for replying.  I'm not certain if it could be either of those or not.  State testing for Sickle Cell Disease is what came up with this.  If either would show up in this test, then it's possible.

The strange thing is, while I was studying this past year, I took a temp job as a social worker for people with sickle cell, so I know a bit about this.  Though, now that I know it affects my family as well, I realized there is much still that I didn't know.

The strange thing is, while I was studying this past year, I took a temp job as a social worker for people with sickle cell, so I know a bit about this.  Though, now that I know it affects my family as well, I realized there is much still that I didn't know.

 

Hi ya ker8 ,
  ,

Best Regards
TAke care
Umair

Hello Ker8,

I'm a thal minor, my body temperature is usually 98.3 or lower. But I also feel very warm easily, like I always have central heating on inside my body!

What you mentioned about being lightheaded when you stand up, I think its called postural hypotension. If u make it a habit to NOT get up too suddenly, you wont get the temporary black outs.